Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Shao-Yun ZhaoLi-Xi LiYu-Lan ChenYi-Jun ChenGong-Lu LiuHai-Lin DongDian-Fu ChenHong-Fu LiZhi-Ying Wu

Published in: CNS neuroscience & therapeutics (2019)

The pathogenicity of eight uncertain significance variants needs further investigation. C-terminal of PRRT2 is crucial for its physiological function.

Keyphrases

copy number
machine learning
deep learning
staphylococcus aureus
genome wide