GAA c.693-4G>A

Variant ID: 17-78081352-G-A

NM_000152.3(GAA):c.693-4G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis.

Cancer Science
Suda, Kazuaki K; Cruz Diaz, Luis Antonio LA; Yoshihara, Kosuke K; Nakaoka, Hirofumi H; Yachida, Nozomi N; Motoyama, Teiichi T; Inoue, Ituro I; Enomoto, Takayuki T
Publication Date: 2020-08

Variant appearance in text: GAA: 693-4G>A; rs200088236
PubMed Link: 32473611
Variant Present in the following documents:
  • CAS-111-3000-s008.xls, sheet 1
View BVdb publication page



Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Orphanet Journal Of Rare Diseases
Johnson, Katherine K; Töpf, Ana A; Bertoli, Marta M; Phillips, Lauren L; Claeys, Kristl G KG; Stojanovic, Vidosava Rakocevic VR; Perić, Stojan S; Hahn, Andreas A; Maddison, Paul P; Akay, Ela E; Bastian, Alexandra E AE; Łusakowska, Anna A; Kostera-Pruszczyk, Anna A; Lek, Monkol M; Xu, Liwen L; MacArthur, Daniel G DG; Straub, Volker V
Publication Date: 2017-11-17

Variant appearance in text: rs200088236
PubMed Link: 29149851
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_722.pdf
View BVdb publication page