Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.G170S
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PRPH2

NM_000322.5:p.G170S

Associated Papers

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.

Wang Y et al.

International Journal of Molecular Sciences, 2023

37047703 (PubMed )
Supplement: ijms-24-06728-s001.zip › WangYW-PRPH2-sup_Table_S2_sub.xlsx › Sheet2

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.

Oishi A et al.

Genes, 2021

Alterations of L- and M-cone driven ERGs in cone and cone-rod dystrophies.

Scholl HP et al.

Vision Research, 2003

The role of the peripherin/RDS gene in retinal dystrophies.

Kohl S et al.

Acta Anatomica, 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."