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