Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.L754_C755delFs
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WFS1

NM_006005.3:p.L754_C755delFs

Associated Papers

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy.

Seo Y et al.

Frontiers in Neurology, 2022

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

Astuti D et al.

Human Mutation, 2017

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

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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."