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CNP0004136
Congenital cataract associated variant
Source: CNGBdb Project (ID CNP0004136)

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Description: Identification of a missense GJA8 variant in a Han-Chinese family with congenital nuclear cataract
Data type: Exome; Variation
Sample scope: Multiisolate
Relevance: Medical
Submitter: 邓昊(Hao Deng); 中南大学湘雅三医院
Release date: 2023-08-10
Last updated: 2023-03-12