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CNP0003957
Disease associated variant
Source: CNGBdb Project (ID CNP0003957)

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Description: USH2A variant identified in a Han-Chinese patient with clinically suspected retinitis pigmentosa.
Data type: Exome; Variation
Sample scope: Multiisolate
Relevance: Medical
Submitter: 邓昊(Hao Deng); 中南大学湘雅三医院
Literatures
  1. PMID: 36875754
Release date: 2023-03-20
Last updated: 2023-01-19