Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.D50H
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PRPH2

NM_000322.5:p.D50H

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

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Peeters MHCA et al.

Human Mutation, 2021

34411390 (PubMed )
Supplement: HUMU-42-1521-s001.xlsx › Suppl._Table_S3

Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.

Zhou L et al.

Experimental Eye Research, 2018

[Gene mapping and analysis of candidate genes in a Chinese family with autosomal dominant congenital coralliform cataract].

Ju H et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012

Gene mapping and mutation screening in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosa.

Xiang F et al.

Genetika, 2012

Gene mapping of autosomal dominant retinitis pigmentosa in a Chinese family.

Dai LL et al.

Chinese Medical Journal, 2009

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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."