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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease alport syndrome
Symptom C0018784|sensorineural hearing loss
Sentences 1
PubMedID- 22887808 There were two deafness genes on xq22.3; col4a5 which is implicated in alport syndrome with variable sensorineural hearing loss barker et al., 1990 and prps1 which is mutated in non-syndromic x-linked deafness-1 liu et al., 2010.

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