Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.E146K
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RS1

NM_000330.4:p.E146K

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

Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.

Huang L et al.

Molecular Genetics & Genomic Medicine, 2020

Novel RS1 mutations associated with X-linked juvenile retinoschisis.

Yi J et al.

International Journal of Molecular Medicine, 2012

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

Nakazawa M

Nippon Ganka Gakkai Zasshi, 1999

Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.

Gehrig A et al.

Clinical Genetics, 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."