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.




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