Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.P292insFs
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WFS1

NM_006005.3:p.P292insFs

Associated Papers

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

Maamouri R et al.

Ophthalmic Genetics, 2023

Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome.

Sobhani M et al.

Endocrine, 2019

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bansal V et al.

Bmc Medicine, 2017

29207974 (PubMed )
Supplement: 12916_2017_977_MOESM1_ESM.pdf

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."