Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.F343_F344insFs
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WFS1

NM_006005.3:p.F343_F344insFs

Associated Papers

Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.

Sobhani M et al.

Gene, 2013

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

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

Yu G et al.

Endocrine, 2010

Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress.

Zatyka M et al.

Human Molecular Genetics, 2008

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.

Hofmann S et al.

Human Molecular Genetics, 2003

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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."