Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.W122C
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RS1

NM_000330.4:p.W122C

Associated Papers

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

Sergeev YV et al.

Human Molecular Genetics, 2010

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.

Renner AB et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2008

X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.

Kim DY et al.

Retina (philadelphia, Pa.), 2006

Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.

Hayashi T et al.

American Journal of Ophthalmology, 2004

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

Simonelli F et al.

The British Journal of Ophthalmology, 2003

X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.

Kim DY et al.

Seminars in Ophthalmology, 0

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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."