Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.S430L
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WFS1

NM_006005.3:p.S430L

Associated Papers

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

Frontino G et al.

Frontiers in Endocrinology, 2023

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

Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients.

Frontino G et al.

Frontiers in Pediatrics, 2021

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

Astuti D et al.

Human Mutation, 2017

28432734 (PubMed )
Supplement: HUMU-38-764-s001.xlsx › Sheet1

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Qian X et al.

Scientific Reports, 2015

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.

Rohayem J et al.

Diabetes Care, 2011

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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."