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TG c.1180_1181insG ;(p.K394Rfs*91)
Variant ID: 8-133898797-A-AG
NM_003235.4(
TG
):c.1180_1181insG;(p.K394Rfs*91)
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:
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Neuromuscular Disorders : Nmd
Inal-Gültekin, Güldal G; Toptaş-Hekimoğlu, Bahar B; Görmez, Zeliha Z; Gelişin, Özlem Ö; Durmuş, Hacer H; Ergüner, Bekir B; Demirci, Hüseyin H; Sağıroğlu, Mahmut Ş MŞ; Parman, Yeşim Y; Deymeer, Feza F; Yılmaz-Aydoğan, Hülya H; Pençe, Sadrettin S; Bekircan-Kurt, Can Ebru CE; Tan, Ersin E; Erdem-Özdamar, Sevim S; Üstek, Duran D; Giger, Urs U; Öztürk, Oğuz O; Serdaroğlu-Oflazer, Piraye P
Publication Date: 2017-11
Variant appearance in text: TG: 1180_1181insG
PubMed Link:
28967462
Variant Present in the following documents:
Main text
View BVdb publication page