Article
A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics.
Archives of oral biology - 1 Feb 2023
Zhao Zhining, Zhang Tingting, Li Tianqi, Ye Yangyang, Feng Chong, Wang Huijuan, Zhang Xiangyu
Abstract excerpt
OBJECTIVE: This study aims to investigate a novel pathogenic variant in a Chinese family of non-syndromic tooth agenesis (NSTA) and study the impact of the variant on related protein and pathway. DESIGN: One NSTA family was collected. Whole exome sequencing and Sanger sequencing were performed on the proband with NSTA and his 5 family members. The pathogenic influence of the mutant is evaluated by bioinformatics...
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