Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.Q392*
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WFS1

NM_006005.3:p.Q392*

Associated Papers

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

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

Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.

Zhang X et al.

Investigative Ophthalmology & Visual Science, 2022

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

False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome--is it the reason for the low number of reported cases of this abnormality?

Homa K et al.

Endokrynologia Polska, 2014

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

Zmyslowska A et al.

Clinical Endocrinology, 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."