Article

Human genetic variations reveal Chromosomal Instability aiding Variants (CIVa) in kinetochore-microtubule associated proteins

2022-01-23

Abstract excerpt

<h4>ABSTRACT</h4> The vast majority of Chromosomal Instability (CIN) promoting mutations remain unknown. We assess the prevalence of Chromosomal Instability aiding Variants (CIVa) by collating Loss-of-Function (LoF) variants predicted in 135 chromosome segregation genes from over 150,000 humans, including consanguineous individuals. Surprisingly, we observe heterozygous and homozygous CIVa in Astrin and SKA3 gene...

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Literature Corpus work: 137c1548-16a9-52f8-83cc-c64489154088
DOI: 10.1101/2022.01.22.477339

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