Article

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft

2025-02-02

Abstract excerpt

Many structural birth defect patients lack genetic diagnoses because there are many disease genes as yet to be discovered. We applied a gene burden test incorporating de novo predicted-loss-of-function (pLoF) and likely damaging missense variants together with inherited pLoF variants to a collection of congenital heart defect (CHD) and orofacial cleft (OC) parent-offspring trio cohorts (n = 3,835 and 1,844, respec...

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Literature Corpus work: 10b910e8-ffc8-52ee-88f8-22e244d076a4
DOI: 10.1101/2025.01.30.25321274

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