Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.R708R
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WFS1

NM_006005.3:p.R708R

Associated Papers

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J et al.

International Journal of Molecular Sciences, 2021

33546218 (PubMed )
Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_table_2

Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.

Bodoor K et al.

Meta Gene, 2016

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K et al.

Human Mutation, 2003

The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders.

Martorell L et al.

Psychiatric Genetics, 2003

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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."