Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.V412_F413delFs
Back to variants list

WFS1

NM_006005.3:p.V412_F413delFs

Associated Papers

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.

Grzybowska-Adamowicz J et al.

Genes, 2024

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

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.

Charif M et al.

Frontiers in Neurology, 2021

33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1

Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome.

Sobhani M et al.

Endocrine, 2019

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bansal V et al.

Bmc Medicine, 2017

29207974 (PubMed )
Supplement: 12916_2017_977_MOESM1_ESM.pdf

Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

Ghahraman M et al.

Acta Diabetologica, 2016

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Grenier J et al.

Ophthalmology, 2016

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

Gasparin MR et al.

European Journal of Endocrinology, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."