Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.Y669*
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WFS1

NM_006005.3:p.Y669*

Associated Papers

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Maamouri R et al.

Ophthalmic Genetics, 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

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

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.

Niu Z et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.

Yu G et al.

Endocrine, 2010

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

Gasparin MR et al.

European Journal of Endocrinology, 2009

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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."