GDF2 c.*748C>A

Variant ID: 10-48412830-G-T

NM_016204.1(GDF2):c.*748C>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Orphanet Journal Of Rare Diseases
Giraud, Sophie S; Bardel, Claire C; Dupuis-Girod, Sophie S; Carette, Marie-France MF; Gilbert-Dussardier, Brigitte B; Riviere, Sophie S; Saurin, Jean-Christophe JC; Eyries, Mélanie M; Patri, Sylvie S; Decullier, Evelyne E; Calender, Alain A; Lesca, Gaëtan G
Publication Date: 2020-09-22

Variant appearance in text: rs9421799
PubMed Link: 32962750
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1533.pdf
View BVdb publication page



Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies.

Journal Of Clinical Medicine
Pope, Daniel H DH; Davies, Benjamin M BM; Mowforth, Oliver D OD; Bowden, A Ramsay AR; Kotter, Mark R N MRN
Publication Date: 2020-01-20

Variant appearance in text: rs9421799
PubMed Link: 31968564
Variant Present in the following documents:
  • Main text
  • jcm-09-00282.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs9421799
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Association of a BMP9 haplotype with ossification of the posterior longitudinal ligament (OPLL) in a Chinese population.

Plos One
Ren, Yuan Y; Liu, Zhi-zhong ZZ; Feng, Jie J; Wan, Hong H; Li, Jun-hua JH; Wang, Hao H; Lin, Xin X
Publication Date: 2012

Variant appearance in text: rs9421799
PubMed Link: 22829878
Variant Present in the following documents:
  • Main text
  • pone.0040587.pdf
View BVdb publication page