2018年10月31日 · Here, we report the identification of RAX2 as a novel disease gene mutated in autosomal recessive retinitis pigmentosa (ARRP), a rod–cone type of IRD, in five unrelated …

2024年12月25日 · RAX2 (Retina And Anterior Neural Fold Homeobox 2) is a Protein Coding gene. Diseases associated with RAX2 include Retinitis Pigmentosa 95 and Cone-Rod …

2017年4月1日 · Vertebrate Rax genes are divided into two subgroups, Rax1 and Rax2. Rax paralogues originated in a primitive vertebrate ancestor. Primitive functions of Rax underwent …

2018年7月12日 · iants in RAX211,12 cause autosomal dominantly inherited retinal disease (IRD). RAX2 shares a nearly identical (93%) homeodomain with RAX, although limited homology is …

This study supports a role for RAX2 as a novel disease gene for recessive IRD, broadening the mutation spectrum from sequence to structural variants and revealing a founder effect. The …

2025年2月8日 · Gene ID: 84839, updated on 8-Feb-2025. This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age …

A frameshift heterozygous mutation in RAX2 inherited in an autosomal dominant fashion was associated with mixed cone and rod dysfunction. Among the patients, there was variability in …

2015年9月3日 · RAX2, which extends the traditional chi-square test to replicated and high-throughput transcriptomic count data of RNA reads derived from NGS, is based on …

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