Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing

Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing

Non-syndromic cleft palate (ns-CP) has a genetically heterogeneous aetiology. Numerous studies have suggested a crucial role of rare coding variants in characterizing the unrevealed component of genetic variation in ns-CP called the “missing heritability”. Therefore, this study aimed to detect low-f...

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Bibliographic Details
Main Authors: Justyna Dąbrowska, Barbara Biedziak, Agnieszka Bogdanowicz, Adrianna Mostowska
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Journal of Clinical Medicine
Subjects:
non-syndromic cleft palate
rare coding variants
pathogenic variants
NGS gene panel
Online Access:https://www.mdpi.com/2077-0383/12/5/2051

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