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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAG

Variant:p.V378I

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SAG

NM_000541.5:p.V378I

hg38:chr2:233346826 G>A

Associated Papers

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )

Supplement: 41525_2022_286_MOESM1_ESM.pdf

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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."