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Article

Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches.

Scientific reports - 25 Apr 2023

Zhao Jing, Zhang Siqi, Jiang Yuan, Liu Yan, Zhu Qingwen

Abstract excerpt

A single base changes causing a change to the amino acid sequence of the encoded protein, which is defined as non-synonymous single nucleotide polymorphisms (nsSNPs). Many of the nsSNPs can cause disease, and these nsSNPs are considered as pathogenic mutations. In the study, the high-risk nsSNPs of WFS1 and their influence on the structure and function of wolframin protein were predicted by multiple...

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PMID: 37185285
DOI: 10.1038/s41598-023-33764-1
PMCID: PMC10130013

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