Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.P192T
Back to variants list

RS1

NM_000330.4:p.P192T

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

X-linked retinoschisis: an update.

Sikkink SK et al.

Journal of Medical Genetics, 2007

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.

Iannaccone A et al.

Vision Research, 2006

Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene.

Tanimoto N et al.

Japanese Journal of Ophthalmology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."