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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WFS1

Variant:p.V415F

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WFS1

NM_006005.3:p.V415F

hg38:chr4:6301038 G>T

Associated Papers

A novel WFS1 variant associated with isolated congenital cataracts.

Krutish A et al.

Cold Spring Harbor Molecular Case Studies, 2023

36781206 (PubMed )

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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."