Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.S73P
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RS1

NM_000330.4:p.S73P

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

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

Li X et al.

Molecular Vision, 2007

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

Hayashi T et al.

American Journal of Ophthalmology, 2004

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

Ma X et al.

Japanese Journal of 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."