Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.T461S
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WFS1

NM_006005.3:p.T461S

Associated Papers

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Li J et al.

Biomed Research International, 2021

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D et al.

Human Mutation, 2017

28432734 (PubMed )
Supplement: HUMU-38-764-s001.xlsx › Sheet1

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

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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."