• Mutation; HGNC; HGNC:10294; RPE65; Simple; p.Trp331Ter (c.992G>A); ClinVar=VCV001702637; Zygosity=Homozygous (PubMed=38631180).
  

PubMed=38631180; DOI=10.1016/j.scr.2024.103413
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Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber congenital amaurosis 2 (LCA2) and harboring mutations in RPE65.
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