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Article

Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases

29 Nov 2019

Abstract excerpt

Background: Anencephaly is a lethal neural tube defect (NTD). Although variants in several genes have been implicated in the development of anencephaly, a more complete picture of variants in the genome, especially de novo variants, remains unresolved. We aim to identify de novo variants (DNVs) that play an important role in the development of anencephaly by performing whole-exome DNA sequencing (WES) of...

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PMID: 31849593
DOI: 10.3389/fnins.2019.01285

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