Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.S73delFs
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RS1

NM_000330.4:p.S73delFs

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

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.

Huang Y et al.

Eye (london, England), 2014

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

Hiriyanna KT et al.

Human Mutation, 1999

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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."