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