Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.L293delFs
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WFS1

NM_006005.3:p.L293delFs

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

Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.

Shields BM et al.

Diabetes Care, 2017

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.

Pitt K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011

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

Yu G et al.

Endocrine, 2010

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Cano A et al.

American Journal of Medical Genetics. Part A, 2007

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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."