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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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