GAA c.1517del ;(p.F506Sfs*14)

Variant ID: 17-78084603-GT-G

NM_000152.3(GAA):c.1517del;(p.F506Sfs*14)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GAA: 1517delT
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.

Molecular Genetics And Metabolism Reports
Zaganas, Ioannis I; Mastorodemos, Vasilios V; Spilioti, Martha M; Mathioudakis, Lambros L; Latsoudis, Helen H; Michaelidou, Kleita K; Kotzamani, Dimitra D; Notas, Konstantinos K; Dimitrakopoulos, Konstantinos K; Skoula, Irene I; Ioannidis, Stefanos S; Klothaki, Eirini E; Erimaki, Sophia S; Stavropoulos, Georgios G; Vassilikos, Vassilios V; Amoiridis, Georgios G; Efthimiadis, Georgios G; Evangeliou, Athanasios A; Mitsias, Panayiotis P
Publication Date: 2020-12

Variant appearance in text: GAA: 1517delT
PubMed Link: 33304817
Variant Present in the following documents:
  • Main text
View BVdb publication page