Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.C142R
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RS1

NM_000330.4:p.C142R

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

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Sergeev YV et al.

Human Molecular Genetics, 2010

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