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PRRT2 c.776dup ;(p.E260*)
Variant ID: 16-29825145-A-AG
NM_145239.2(
PRRT2
):c.776dup;(p.E260*)
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:
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
Italian Journal Of Pediatrics
Pavone, Piero P; Corsello, Giovanni G; Cho, Sung Yoon SY; Pappalardo, Xena Giada XG; Ruggieri, Martino M; Marino, Simona Domenica SD; Jin, Dong Kyu DK; Marino, Silvia S; Falsaperla, Raffaele R
Publication Date: 2019-12-04
Variant appearance in text: PRRT2: 776dupG
PubMed Link:
31801583
Variant Present in the following documents:
Main text
13052_2019_Article_755.pdf
View BVdb publication page
Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.
Bmc Neurology
Hedera, Peter P; Xiao, Jianfeng J; Puschmann, Andreas A; Momčilović, Dragana D; Wu, Steve W SW; LeDoux, Mark S MS
Publication Date: 2012-09-18
Variant appearance in text: PRRT2: 776dupG
PubMed Link:
22985072
Variant Present in the following documents:
Main text
1471-2377-12-93.pdf
View BVdb publication page