Article

Chromosomal instability by mutations in a novel specificity factor of the minor spliceosome

2020-08-06

Abstract excerpt

Aneuploidy is the leading cause of miscarriage and congenital birth defects, and a hallmark of cancer. Despite this strong association with human disease, the genetic causes of aneuploidy remain largely unknown. Through exome sequencing of patients with constitutional mosaic aneuploidy, we identified biallelic truncating mutations in CENATAC ( CCDC84 ). We show that CENATAC is a novel component of the minor (U12...

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Literature Corpus work: 264dade4-56ee-55be-a6b8-60692e8cd024
DOI: 10.1101/2020.08.06.239418

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