Article

Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency

2023-09-25

Abstract excerpt

<h4>Summary</h4> While monogenic variants in CDC45-MCM-GINS (CMG) replisome proteins cause human natural killer cell deficiencies (NKD), family members with the same inherited variants often have variable clinical and cellular phenotypes. We investigated two siblings with inherited compound heterozygous GINS4 variants but variable disease expressivity. Cell cycle impairment and increased apoptosis were detected...

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Literature Corpus work: 152f00f5-a1f5-5d27-b717-37308678842c
DOI: 10.1101/2023.09.25.559149

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