Bibliome.ai browser hg19
Search
About
Stats
FAQ
PRRT2 c.560dup ;(p.Q188Afs*4)
Variant ID: 16-29824934-C-CT
NM_145239.2(
PRRT2
):c.560dup;(p.Q188Afs*4)
This variant was identified in 1 publication
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: 560dupT
PubMed Link:
29215089
Variant Present in the following documents:
Main text
10038_2017_Article_359.pdf
View BVdb publication page