Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.T449I
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WFS1

NM_006005.3:p.T449I

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

WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.

Yu G et al.

Endocrine, 2010

Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.

d'Annunzio G et al.

Diabetes Care, 2008

Phenotype-genotype correlations in a series of wolfram syndrome families.

Smith CJ et al.

Diabetes Care, 2004

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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."