Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.R425K
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RPGR

NM_001034853.2:p.R425K

Associated Papers

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Zhang D et al.

Annals of Human Genetics, 2022

35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData

Sequence variation within the RPGR gene: evidence for a founder complex allele.

Zito I et al.

Human Mutation, 2000

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Miano MG et al.

European Journal of Human Genetics : Ejhg, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."