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Article

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Scientific reports - 5 Oct 2015

Qian Xuli, Qin Luyang, Xing Guangqian, Cao Xin

Abstract excerpt

Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder that has an autosomal recessive pattern of inheritance. The gene for WS, wolfram syndrome 1 gene (WFS1), is located on human chromosome 4p16.1 and encodes a transmembrane protein. To date, approximately 230 mutations in WFS1 have been confirmed, in which nonsynonymous single nucleotide polymorphisms (nsSNPs) are the most common forms of...

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Source

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Identifiers

PMID: 26435059
DOI: 10.1038/srep14731
PMCID: PMC4592972

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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