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PRRT2 c.577G>T ;(p.E193*)
Variant ID: 16-29824952-G-T
NM_145239.2(
PRRT2
):c.577G>T;(p.E193*)
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:
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
Frontiers In Genetics
Graziola, Federica F; Garone, Giacomo G; Stregapede, Fabrizia F; Bosco, Luca L; Vigevano, Federico F; Curatolo, Paolo P; Bertini, Enrico E; Travaglini, Lorena L; Capuano, Alessandro A
Publication Date: 2019
Variant appearance in text: PRRT2: 577G>T; E193X
PubMed Link:
31737037
Variant Present in the following documents:
Main text
fgene-10-01026.pdf
View BVdb publication page