GAA c.956del ;(p.D319Vfs*73)

Variant ID: 17-78082089-GA-G

NM_000152.3(GAA):c.956del;(p.D319Vfs*73)

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: 956delA
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

Orphanet Journal Of Rare Diseases
Vanherpe, P P; Fieuws, S S; D'Hondt, A A; Bleyenheuft, C C; Demaerel, P P; De Bleecker, J J; Van den Bergh, P P; Baets, J J; Remiche, G G; Verhoeven, K K; Delstanche, S S; Toussaint, M M; Buyse, B B; Van Damme, P P; Depuydt, C E CE; Claeys, K G KG
Publication Date: 2020-04-05

Variant appearance in text: GAA: 956del
PubMed Link: 32248831
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1353.pdf
View BVdb publication page