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Article

Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only.

Biomolecules - 26 Jan 2023

Iovino Emanuela, Scapoli Luca, Palmieri Annalisa, Sgarzani Rossella, Nouri Nayereh, Pellati Agnese, Carinci Francesco, Seri Marco, Pippucci Tommaso, Martinelli Marcella

Abstract excerpt

In recent decades, many efforts have been made to elucidate the genetic causes of non-syndromic cleft palate (nsCPO), a complex congenital disease caused by the interaction of several genetic and environmental factors. Since genome-wide association studies have evidenced a minor contribution of common polymorphisms in nsCPO inheritance, we used whole exome sequencing data to explore the role of ultra-rare...

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PMID: 36830605
DOI: 10.3390/biom13020236
PMCID: PMC9953608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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