Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.T461P
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WFS1

NM_006005.3:p.T461P

Associated Papers

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

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.

Ding Y et al.

Journal of Diabetes Investigation, 2021

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

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

La Morgia C et al.

Scientific Reports, 2020

Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.

Rigoli L et al.

Pediatric Research, 2020

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 1 and Wolfram syndrome 2.

Rigoli L et al.

Current Opinion in Pediatrics, 2012

Wolfram syndrome: new mutations, different phenotype.

Aloi C et al.

Plos One, 2012

Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes.

Silvestri F et al.

Aace Clinical Case Reports, 0

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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."