Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.S443R
Back to variants list

WFS1

NM_006005.3:p.S443R

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.

Bouhouche A et al.

Genetic Testing and Molecular Biomarkers, 2024

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.

Ding Y et al.

Frontiers in Endocrinology, 2023

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.

Lee EM et al.

Frontiers in Genetics, 2023

37415600 (PubMed )
Supplement: DataSheet1.XLSX › Supplementary_Materials

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Li J et al.

Biomed Research International, 2021

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

Sobhani M et al.

Endocrine, 2019

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E et al.

Diabetes, 2017

Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.

Zmyslowska A et al.

Clinical Endocrinology, 2011

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."