Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.L554_Y563del0
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WFS1

NM_006005.3:p.L554_Y563del0

Associated Papers

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

Sobhani M et al.

Endocrine, 2019

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Grenier J et al.

Ophthalmology, 2016

Wolfram syndrome and WFS1 gene.

Rigoli L et al.

Clinical Genetics, 2011

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

Giuliano F et al.

Human Mutation, 2005

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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."