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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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