Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.G140R
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RS1

NM_000330.4:p.G140R

Associated Papers

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

Bender C et al.

Genes, 2022

35456481 (PubMed )
Supplement: genes-13-00675-s001.zip › genes-1649451-supplementary.xlsx › Supplementary_Table_S2

Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.

Hu QR et al.

Scientific Reports, 2017

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Molday RS et al.

Progress in Retinal and Eye Research, 2012

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

Lesch B et al.

Molecular Vision, 2008

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

Nakazawa M

Nippon Ganka Gakkai Zasshi, 1999

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

Hiriyanna KT et al.

Human Mutation, 1999

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."