Homo sapiens Exome
收藏NIAID Data Ecosystem2026-03-14 收录
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资源简介：
We identified a novel microdeletion, 517 kb in size located about 133 kb downstream of the PAX6 gene, responsible for congenital aniridia in this Chinese family, which expands the spectrum of aniridia-associated mutations in PAX6.
创建时间：
2022-09-20
