Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R174_V175Splc
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RS1

NM_000330.4:p.R174_V175Splc

Associated Papers

Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene.

Azevedo LS et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2024

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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."