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Computational Analysis Revealed Five Novel Mutations in Human <i>IL2RG</i> gene Related to X-SCID

2019-01-23

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> X linked severe combined immunodeficiency (X-SCID) is a life-threatening disorder. It is due to mutation of the interleukin two receptor gamma-chain (IL2RG) gene. Nonsynonymous SNPs (nsSNPs) are the most common polymorphism, known to be deleterious or disease-causing variations because they alter protein sequence, structure, and function. <h4>Objective:</h4> is to reveal the...

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Literature Corpus work: df10dfd3-7f03-54a6-9442-0dad72889275
DOI: 10.1101/528349

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