| becker muscular dystrophy | ||||
| Disease ID | 233 |
|---|---|
| Disease | becker muscular dystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:15) C1839611 | n syndrome C0878544 | myocardiopathy C0878544 | cardiomyopathy C0231528 | myalgia C0151517 | complete atrioventricular block C0040053 | thrombosis C0037315 | sleep apnea C0025362 | mental retardation C0024591 | malignant hyperthermia C0019829 | hodgkin's disease C0018801 | heart failure C0018801 | cardiac failure C0014544 | epilepsy C0007780 | cerebral embolism C0003864 | arthritis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:138) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894787 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31178784 | G | A |
| rs104894791 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31177932 | G | A |
| rs104894797 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31206663 | G | A |
| rs1064325 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32345999 | G | T,A |
| rs128626236 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32816495 | G | T |
| rs128626237 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32699252 | A | T |
| rs128626251 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32216981 | G | A |
| rs128627256 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31478330 | G | A |
| rs146071084 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32454660 | A | T |
| rs1800279 | NA | 1756 | DMD | umls:C0917713 | UNIPROT | NA | 0.497741174 | NA | DMD | X | 31478281 | T | C |
| rs1800279 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31478281 | T | C |
| rs199774535 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32348491 | G | A,C |
| rs201361100 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31478995 | G | C |
| rs267606771 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32448611 | C | A |
| rs370644567 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32573618 | A | G |
| rs373286166 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32573529 | C | T |
| rs373804251 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32310127 | A | G,T |
| rs398122853 | 19793655 | 1756 | DMD | umls:C0917713 | BeFree | DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. | 0.497741174 | 2009 | DMD | X | 33211304 | C | T |
| rs398122853 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 33211304 | C | T |
| rs398123827 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31180423 | G | A |
| rs398123828 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31180369 | C | T |
| rs398123830 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32645101 | C | A |
| rs398123832 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31178721 | G | A |
| rs398123834 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31178668 | C | T,G |
| rs398123837 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31169549 | AG | - |
| rs398123840 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32645065 | C | A |
| rs398123852 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32644202 | G | C,A |
| rs398123853 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32644177 | G | T |
| rs398123854 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32644156 | - | C |
| rs398123856 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32614442 | - | CT |
| rs398123857 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32614414 | C | - |
| rs398123861 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32614320 | G | A |
| rs398123862 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32614302 | C | A |
| rs398123863 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32595829 | GA | - |
| rs398123865 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32573834 | G | A |
| rs398123867 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32565808 | G | T |
| rs398123870 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32565704 | G | A |
| rs398123872 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32545295 | G | C,A |
| rs398123875 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32545202 | G | - |
| rs398123882 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32501838 | ATGG | - |
| rs398123883 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32501803 | G | A |
| rs398123884 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32501754 | C | G |
| rs398123887 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32491519 | C | A |
| rs398123888 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32491480 | G | A |
| rs398123895 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32491352 | A | - |
| rs398123903 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32485072 | G | A |
| rs398123908 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32484918 | C | T,A |
| rs398123909 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32472310 | C | T |
| rs398123910 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32472297 | A | T |
| rs398123913 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 33211285 | A | - |
| rs398123923 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 33211281 | C | A |
| rs398123934 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32464585 | C | T |
| rs398123935 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32463576 | G | A |
| rs398123936 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32823316 | C | T |
| rs398123937 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32463438 | C | T |
| rs398123942 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32454685 | G | A |
| rs398123943 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32448602 | - | T |
| rs398123945 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32448495 | C | - |
| rs398123946 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32448457 | TCCAAAG | CC |
| rs398123948 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32411868 | G | A |
| rs398123949 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32816585 | TT | - |
| rs398123957 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32389547 | TT | - |
| rs398123961 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32386449 | AG | - |
| rs398123962 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32386435 | ACTTC | - |
| rs398123979 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32364609 | TTTC | - |
| rs398123981 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32362826 | G | A |
| rs398123993 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32343233 | A | T |
| rs398123999 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32809559 | G | A |
| rs398124001 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32310261 | C | A |
| rs398124002 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32310199 | A | T |
| rs398124004 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32809527 | A | T |
| rs398124005 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32287637 | G | - |
| rs398124032 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32809492 | C | T |
| rs398124036 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31929602 | C | T,A |
| rs398124042 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31836729 | G | A |
| rs398124044 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31819974 | C | T |
| rs398124050 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31729634 | G | A |
| rs398124052 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31679565 | C | T |
| rs398124053 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31679564 | C | T |
| rs398124058 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31658123 | G | A |
| rs398124060 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31627825 | TA | - |
| rs398124070 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31507296 | TT | - |
| rs398124074 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31479043 | G | A |
| rs398124075 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31478998 | AG | - |
| rs398124078 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31478130 | GA | - |
| rs398124080 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31348594 | T | - |
| rs398124082 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31323659 | C | G,A |
| rs398124091 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31261663 | T | C |
| rs398124092 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31223071 | G | A |
| rs398124094 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31223046 | C | T,G |
| rs398124096 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31206668 | C | T |
| rs398124100 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31204120 | T | C |
| rs398124106 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31182850 | C | A |
| rs5030730 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32438372 | G | A |
| rs587776747 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31261301 | T | C |
| rs72468700 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32614462 | T | G,C |
| rs727503802 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31478363 | C | A |
| rs727503830 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32380549 | T | A |
| rs727503836 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32454733 | C | A |
| rs727503844 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32468704 | G | A |
| rs727503850 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32484967 | T | A |
| rs727503858 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32491415 | A | C |
| rs727503864 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32697947 | G | A |
| rs754896795 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31875304 | T | C |
| rs794726993 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32645020 | G | A |
| rs794726994 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32645043 | G | - |
| rs794727030 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32644315 | T | C |
| rs794727097 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32595823 | GTGA | - |
| rs794727123 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32573744 | C | T |
| rs794727170 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32565782 | G | A |
| rs794727322 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32491297 | TT | - |
| rs794727357 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32472311 | T | A |
| rs794727358 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32472297 | AA | - |
| rs794727359 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32472179 | TC | - |
| rs794727421 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32454765 | GATA | - |
| rs794727422 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32454730 | C | A |
| rs794727463 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32441263 | T | A |
| rs794727499 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32849781 | G | A |
| rs794727550 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32390100 | T | A |
| rs794727567 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32386461 | A | - |
| rs794727575 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32380682 | T | C |
| rs794727661 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32343176 | T | - |
| rs794727672 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32287581 | G | - |
| rs794727746 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31819988 | GG | - |
| rs794727749 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31774058 | G | - |
| rs794727763 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31627706 | G | - |
| rs794727770 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31478376 | T | G |
| rs794727795 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32816570 | CAGCTCAGGAGAAT | - |
| rs794727820 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31323606 | G | C |
| rs794727832 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31180478 | G | C |
| rs794727861 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32809577 | G | A |
| rs794727862 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32809515 | T | - |
| rs794727890 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31147520 | T | C |
| rs796065325 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 33211298 | TT | A |
| rs796065333 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32809594 | - | A |
| rs797044743 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31932168 | - | AAAC |
| rs797044756 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 32823360 | - | A |
| rs797044764 | NA | 1756 | DMD | umls:C0917713 | CLINVAR | NA | 0.497741174 | NA | DMD | X | 31820036 | - | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |