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Article

Identification, analysis of deleterious SNPs of the human GSR gene and their effects on the structure and functions of associated proteins and other diseases.

Scientific reports - 31 Mar 2022

Vyas Bharti, Bhowmik Ratul, Akhter Mymoona, Ahmad Farhan Jalees

Abstract excerpt

Hereditary glutathione reductase deficiency, caused by mutations of the GSR gene, is an autosomal recessive disorder characterized by decreased glutathione disulfide (GSSG) reduction activity and increased thermal instability. This study implemented computational analysis to screen the most likely mutation that might be associated with hereditary glutathione reductase deficiency and other diseases. Using ten...

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PMID: 35361806
DOI: 10.1038/s41598-022-09295-6
PMCID: PMC8971378

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