Article

Four Loss of Function Pathogenic Variants in ARHGAP29 in Non-Syndromic Cleft Lip and Palate

2024-07-15

Abstract excerpt

<title>Abstract</title> <p>The pathophysiological basis of non-syndromic cleft lip and/or palate (NsCL/P) is still largely unclear. However, exome sequencing (ES) has allowed to associate several genes with NsCL/P, often with reduced penetrance. Among these genes, the <italic>Rho GTPase activating protein 29 (ARHGAP29)</italic> has been previously implicated in 7 families with NsCL/P. We investigated a cohort of...

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Literature Corpus work: 8386070e-35bb-57b2-83e4-42c098c06a0a
DOI: 10.21203/rs.3.rs-4557690/v1

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