Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.E146D
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RS1

NM_000330.4:p.E146D

Associated Papers

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.

Kondo H et al.

Human Genome Variation, 2019

[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].

Nakazawa M

Nippon Ganka Gakkai Zasshi, 1999

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

Hotta Y et al.

Human Genetics, 1998

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.

Unknown Author

Human Molecular Genetics, 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."