Varaico: Literature-Extracted Genetic Variants

Gene:GPR143
Variant:p.C256Splc
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GPR143

NM_000273.3:p.C256Splc

Associated Papers

Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.

Jiang Y et al.

Journal of Translational Medicine, 2024

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Xing D et al.

Bmc Ophthalmology, 2020

33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData

A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms.

Kondo H et al.

Japanese Journal of Ophthalmology, 2010

Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.

Ohtsubo M et al.

Japanese Journal of Ophthalmology, 2010

Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.

Ohtsubo M et al.

Japanese Journal of Ophthalmology, 2010

Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC.

Sallmann GB et al.

Ophthalmic Genetics, 2006

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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."