PDE11A c.1656_1658del ;(p.F553del)

Variant ID: 2-178681634-AAAG-A

NM_016953.3(PDE11A):c.1656_1658del;(p.F553del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.

The Journal Of Clinical Endocrinology And Metabolism
Azevedo, Monalisa F MF; Horvath, Anelia A; Bornstein, Ethan R ER; Almeida, Madson Q MQ; Xekouki, Paraskevi P; Faucz, Fabio R FR; Gourgari, Evgenia E; Nadella, Kiran K; Remmers, Elaine F EF; Quezado, Martha M; de Alexandre, Rodrigo Bertollo RB; Kratz, Christian P CP; Nesterova, Maria M; Greene, Mark H MH; Stratakis, Constantine A CA
Publication Date: 2013-08

Variant appearance in text: PDE11A: 1655_1657del
PubMed Link: 23771924
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.

Cancer Research
Horvath, Anelia A; Korde, Larissa L; Greene, Mark H MH; Libe, Rossella R; Osorio, Paulo P; Faucz, Fabio Rueda FR; Raffin-Sanson, Marie Laure ML; Tsang, Kit Man KM; Drori-Herishanu, Limor L; Patronas, Yianna Y; Remmers, Elaine F EF; Nikita, Maria Eleni ME; Moran, Jason J; Greene, Joseph J; Nesterova, Maria M; Merino, Maria M; Bertherat, Jerome J; Stratakis, Constantine A CA
Publication Date: 2009-07-01

Variant appearance in text: PDE11A: 1655_1657del
PubMed Link: 19549888
Variant Present in the following documents:
  • Main text
View BVdb publication page