Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
收藏NIAID Data Ecosystem2026-03-11 收录
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https://www.omicsdi.org/dataset/ega/EGAS00001001013
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资源简介：
In this work, using exome sequencing, we identified biallelic PNLPA6 mutations in patients with childhood blindness due to severe photoreceptor death and clinical features of Leber congenital amaurosis (LCA) and, interestingly, also of the rare Oliver McFarlane SyndromeEGA study EGAS00001001013
创建时间：
2019-10-01
