Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.F883fs
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WFS1

NM_006005.3:p.F883fs

Associated Papers

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

Evidence of retinal degeneration in Wolfram syndrome.

Scaramuzzi M et al.

Ophthalmic Genetics, 2019

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E et al.

Diabetes, 2017

Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.

Lugar HM et al.

Scientific Reports, 2016

26888576 (PubMed )
Supplement: srep21167-s1.pdf

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.

Rohayem J et al.

Diabetes Care, 2011

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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."