Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.C426Y
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WFS1

NM_006005.3:p.C426Y

Associated Papers

Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.

Carrera P et al.

Diabetologia, 2023

Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease.

Lee W et al.

Ophthalmology. Retina, 2022

The Impact of Mutations in Wolframin on Psychiatric Disorders.

Munshani S et al.

Frontiers in Pediatrics, 2021

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K et al.

Human Mutation, 2003

Mutation screening of the Wolfram syndrome gene in psychiatric patients.

Torres R et al.

Molecular Psychiatry, 2001

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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."