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Article

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.

HGG advances - 18 Jul 2024

Itai Toshiyuki, Yan Fangfang, Liu Andi, Dai Yulin, Iwaya Chihiro, Curtis Sarah W, Leslie Elizabeth J, Simon Lukas M, Jia Peilin, Chen Xiangning, Iwata Junichi, Zhao Zhongming

Abstract excerpt

Orofacial clefts (OFCs) are common congenital birth defects with various etiologies, including genetic variants. Online Mendelian Inheritance in Man (OMIM) annotated several hundred genes involving OFCs. Furthermore, several hundreds of de novo variants (DNVs) have been identified from individuals with OFCs. Some DNVs are related to known OFC genes or pathways, but there are still many DNVs whose relevance to OFC...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38807368
DOI: 10.1016/j.xhgg.2024.100313
PMCID: PMC11318074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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