Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N310S
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RHO

NM_000539.3:p.N310S

Associated Papers

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1

Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.

Matias-Florentino M et al.

Current Eye Research, 2009

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM et al.

Human Mutation, 2001

[Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa].

Zhang F et al.

Yan Ke Xue Bao = Eye Science, 1998

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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."