eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | neurofibromatosis |
| Comorbidity | C0085113|neurofibromatosis |
| Sentences | 6 |
| PubMedID- 24413922 | The mutational spectrum of the nf1 gene in neurofibromatosis type i patients from uae. |
| PubMedID- 22965773 | A new nonsense mutation in the nf1 gene with neurofibromatosis-noonan syndrome phenotype. |
| PubMedID- 21618341 | Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic nf1 gene mutation. |
| PubMedID- 23042387 | Objective: to detect nf1 gene mutation in a patient with neurofibromatosis type 1. |
| PubMedID- 21365283 | Familial spinal neurofibromatosis due to a multiexonic nf1 gene deletion. |
| PubMedID- 25166435 | Exonic deletions in the nf1 gene in patients with neurofibromatosis type i from the lower silesian region of poland. |
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