Two rare variants reveal the significance of Grainyhead-like 3 Arginine 391 underlying non-syndromic cleft palate only.

Wenbin HuangQing HeMingzhao LiYi DingWei LiangWeiran LiJiuxiang LinHuaxiang Zhao Feng Chen

Published in: Oral diseases (2022)

In aggregate, this study identified and characterized a rare GRHL3 variant in NSCPO, revealing the critical role of Arginine 391 in GRHL3. Our findings will help facilitate understanding and genetic counseling of NSCPO.

Keyphrases

nitric oxide
genome wide
copy number
intellectual disability
amino acid
single cell
smoking cessation
gene expression
autism spectrum disorder
hiv infected