Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.T337I
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WFS1

NM_006005.3:p.T337I

Associated Papers

Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings.

Singh RP et al.

Annals of Indian Academy of Neurology, 2025

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

Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.

Yaghootkar H et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2019

Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

Ghahraman M et al.

Acta Diabetologica, 2016

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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."