Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.L69P
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RS1

NM_000330.4:p.L69P

Associated Papers

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

Fortunato P et al.

Ophthalmic Genetics, 2023

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

Sergeev YV et al.

Human Molecular Genetics, 2013

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

Molday RS et al.

Progress in Retinal and Eye Research, 2012

Novel phenotypic and genotypic findings in X-linked retinoschisis.

Tsang SH et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2007

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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."