PRRT2 c.972del ;(p.V325Sfs*12)

Variant ID: 16-29825746-GA-G

NM_145239.2(PRRT2):c.972del;(p.V325Sfs*12)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic and epigenetic mechanisms of epilepsy: a review.

Neuropsychiatric Disease And Treatment
Chen, Tian T; Giri, Mohan M; Xia, Zhenyi Z; Subedi, Yadu Nanda YN; Li, Yan Y
Publication Date: 2017

Variant appearance in text: PRRT2: 972delA; Val325Serfs*12
PubMed Link: 28761347
Variant Present in the following documents:
  • Main text
  • ndt-13-1841.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: 972delA
PubMed Link: 24370076
Variant Present in the following documents:
  • 1471-2377-13-209-S2.xlsx, sheet 1
View BVdb publication page