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PRRT2 c.742_743delinsTT ;(p.S248F)
Variant ID: 16-29825117-AG-TT
NM_145239.2(
PRRT2
):c.742_743delinsTT;(p.S248F)
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:
Cholinergic Signaling, Neural Excitability, and Epilepsy.
Molecules (Basel, Switzerland)
Wang, Yu Y; Tan, Bei B; Wang, Yi Y; Chen, Zhong Z
Publication Date: 2021-04-13
Variant appearance in text: PKC: S248F
PubMed Link:
33924731
Variant Present in the following documents:
Main text
View BVdb publication page