Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.R248S
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PRPH2

NM_000322.5:p.R248S

Associated Papers

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

Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes.

Antonelli G et al.

Diagnostics (basel, Switzerland), 2022

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

Zernant J et al.

Plos Genetics, 2022

35353811 (PubMed )
Supplement: pgen.1010129.s001.xlsx › Sheet1
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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."