Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.L69delFs
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RS1

NM_000330.4:p.L69delFs

Associated Papers

Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.

Xiao S et al.

The British Journal of Ophthalmology, 2023

Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Bai Z et al.

Bmc Medical Genomics, 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."