Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.I845N
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WFS1

NM_006005.3:p.I845N

Associated Papers

Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.

Caretto A et al.

Frontiers in Medicine, 2025

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Sherif M et al.

Journal of Clinical Research in Pediatric Endocrinology, 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

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Li B et al.

Journal of Ophthalmology, 2020

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).

Çelmeli G et al.

Journal of Clinical Research in Pediatric Endocrinology, 2017

Wolfram Tyrer syndrome (a case report).

Singh J et al.

Indian Journal of Ophthalmology, 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."