Article

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

2022-08-23

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Orofacial clefts (OFCs) are common birth defects including cleft lip (CL), cleft lip and palate (CLP), and cleft palate (CP). OFCs have heterogeneous etiologies, complicating clinical diagnostics as it is not always apparent if the cause is Mendelian, environmental, or multifactorial. Sequencing is not currently performed for isolated or sporadic OFCs, so we estimated the diagnos...

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Literature Corpus work: 0edc961f-728b-53a9-a30d-2883005b83a9
DOI: 10.1101/2022.08.15.22278795

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