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Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.

Molecular genetics and genomics : MGG - 1 Sept 2022

Dąbrowska Justyna, Biedziak Barbara, Szponar-Żurowska Anna, Budner Margareta, Jagodziński Paweł P, Płoski Rafał, Mostowska Adrianna

Abstract excerpt

For non-syndromic cleft lip with or without cleft palate (ns-CL/P), the proportion of heritability explained by the known risk loci is estimated to be about 30% and is captured mainly by common variants identified in genome-wide association studies. To contribute to the explanation of the "missing heritability" problem for orofacial clefts, a candidate gene approach was taken to investigate the potential role of...

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PMID: 35778651
DOI: 10.1007/s00438-022-01919-w

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