Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.K34_V35Splc
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RP2

NM_006915.3:p.K34_V35Splc

Associated Papers

RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.

Fujinami K et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Kurata K et al.

International Journal of Molecular Sciences, 2019

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM et al.

Journal of Medical Genetics, 2016

27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Jayasundera T et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

Novel mutations of the RPGR gene in RP3 families.

Zito I et al.

Human Mutation, 2000

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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."