Homo sapiens Exome. Homo sapiens
收藏NIAID Data Ecosystem2026-03-13 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA865389
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资源简介：
To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy.
创建时间：
2022-08-02
