PRRT2 c.904dup ;(p.D302Gfs*39)

Variant ID: 16-29825673-A-AG

NM_145239.2(PRRT2):c.904dup;(p.D302Gfs*39)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.

Journal Of Human Genetics
Zeng, Qi Q; Yang, Xiaoling X; Zhang, Jing J; Liu, Aijie A; Yang, Zhixian Z; Liu, Xiaoyan X; Wu, Ye Y; Wu, Xiru X; Wei, Liping L; Zhang, Yuehua Y
Publication Date: 2018-01

Variant appearance in text: PRRT2: 904dupG
PubMed Link: 29215089
Variant Present in the following documents:
  • Main text
  • 10038_2017_Article_359.pdf
View BVdb publication page



Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.

Bmc Neurology
Yang, Xiaoling X; Zhang, Yuehua Y; Xu, Xiaojing X; Wang, Shuang S; Yang, Zhixian Z; Wu, Ye Y; Liu, Xiaoyan X; Wu, Xiru X
Publication Date: 2013-12-26

Variant appearance in text: ICCA: 904_905insG
PubMed Link: 24370076
Variant Present in the following documents:
  • Main text
  • 1471-2377-13-209.pdf
View BVdb publication page