PC c.1338_1339insT ;(p.L447Sfs*105)

Variant ID: 11-66631274-G-GA

NM_001040716.1(PC):c.1338_1339insT;(p.L447Sfs*105)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.

Genetics And Molecular Biology
Carlin, Marcelo Paschoalete MP; Scherrer, Daniel Zanetti DZ; De Tommaso, Adriana Maria Alves AM; Bertuzzo, Carmen Silvia CS; Steiner, Carlos Eduardo CE
Publication Date: 2013-12

Variant appearance in text: PC: 1338_1339insT
PubMed Link: 24385852
Variant Present in the following documents:
  • Main text
  • gmb-36-502.pdf
View BVdb publication page