Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.F108C
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RS1

NM_000330.4:p.F108C

Associated Papers

Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.

Heymann JB et al.

The Journal of Cell Biology, 2019

Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.

Plössl K et al.

Experimental Eye Research, 2018

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Molday RS et al.

Progress in Retinal and Eye Research, 2012

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

Sergeev YV et al.

Human Molecular Genetics, 2010

Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.

Wang T et al.

The British Journal of Ophthalmology, 2006

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

Gehrig A et al.

Clinical Genetics, 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."