Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.W122*
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RS1

NM_000330.4:p.W122*

Associated Papers

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.

Areblom M et al.

Genes, 2023

A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis.

Zhang N et al.

Experimental and Therapeutic Medicine, 2021

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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."