Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R191P
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RS1

NM_000330.4:p.R191P

Associated Papers

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Sergeev YV et al.

Human Molecular Genetics, 2013

A phenotype-genotype correlation study of X-linked retinoschisis.

Vincent A et al.

Ophthalmology, 2013

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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."