GDF2 c.911C>T ;(p.T304M)

Variant ID: 10-48413957-G-A

NM_016204.1(GDF2):c.911C>T;(p.T304M)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: GDF2: 911C>T; T304M
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review.

Frontiers In Genetics
Couto, Ana Rita AR; Parreira, Bruna B; Power, Deborah M DM; Pinheiro, Luís L; Madruga Dias, João J; Novofastovski, Irina I; Eshed, Iris I; Sarzi-Puttini, Piercarlo P; Pappone, Nicola N; Atzeni, Fabiola F; Verlaan, Jorrit-Jan JJ; Kuperus, Jonneke J; Bieber, Amir A; Ambrosino, Pasquale P; Kiefer, David D; Khan, Muhammad Asim MA; Mader, Reuven R; Baraliakos, Xenofon X; Bruges-Armas, Jácome J
Publication Date: 2022

Variant appearance in text: rs75024165
PubMed Link: 36276944
Variant Present in the following documents:
  • Main text
  • fgene-13-987867.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: rs75024165
PubMed Link: 31968564
Variant Present in the following documents:
  • Main text
  • jcm-09-00282.pdf
View BVdb publication page



Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.

American Journal Of Respiratory And Critical Care Medicine
Hodgson, Joshua J; Swietlik, Emilia M EM; Salmon, Richard M RM; Hadinnapola, Charaka C; Nikolic, Ivana I; Wharton, John J; Guo, Jingxu J; Liley, James J; Haimel, Matthias M; Bleda, Marta M; Southgate, Laura L; Machado, Rajiv D RD; Martin, Jennifer M JM; Treacy, Carmen M CM; Yates, Katherine K; Daugherty, Louise C LC; Shamardina, Olga O; Whitehorn, Deborah D; Holden, Simon S; Bogaard, Harm J HJ; Church, Colin C; Coghlan, Gerry G; Condliffe, Robin R; Corris, Paul A PA; Danesino, Cesare C; Eyries, Mélanie M; Gall, Henning H; Ghio, Stefano S; Ghofrani, Hossein-Ardeschir HA; Gibbs, J Simon R JSR; Girerd, Barbara B; Houweling, Arjan C AC; Howard, Luke L; Humbert, Marc M; Kiely, David G DG; Kovacs, Gabor G; Lawrie, Allan A; MacKenzie Ross, Robert V RV; Moledina, Shahin S; Montani, David D; Olschewski, Andrea A; Olschewski, Horst H; Ouwehand, Willem H WH; Peacock, Andrew J AJ; Pepke-Zaba, Joanna J; Prokopenko, Inga I; Rhodes, Christopher J CJ; Scelsi, Laura L; Seeger, Werner W; Soubrier, Florent F; Suntharalingam, Jay J; Toshner, Mark R MR; Trembath, Richard C RC; Vonk Noordegraaf, Anton A; Wort, Stephen J SJ; Wilkins, Martin R MR; Yu, Paul B PB; Li, Wei W; Gräf, Stefan S; Upton, Paul D PD; Morrell, Nicholas W NW
Publication Date: 2020-03-01

Variant appearance in text: BMP9: T304M
PubMed Link: 31661308
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: GDF2: T304M
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 40
View BVdb publication page



The Pathogenesis of Ossification of the Posterior Longitudinal Ligament.

Aging And Disease
Yan, Liang L; Gao, Rui R; Liu, Yang Y; He, Baorong B; Lv, Shemin S; Hao, Dingjun D
Publication Date: 2017-10

Variant appearance in text: rs75024165
PubMed Link: 28966802
Variant Present in the following documents:
  • Main text
  • ad-8-5-570.pdf
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: GDF2: T304M
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes.

Scientific Reports
Chen, Xin X; Guo, Jun J; Cai, Tao T; Zhang, Fengshan F; Pan, Shengfa S; Zhang, Li L; Wang, Shaobo S; Zhou, Feifei F; Diao, Yinze Y; Zhao, Yanbin Y; Chen, Zhen Z; Liu, Xiaoguang X; Chen, Zhongqiang Z; Liu, Zhongjun Z; Sun, Yu Y; Du, Jie J
Publication Date: 2016-06-01

Variant appearance in text: BMP9: T304M; rs75024165
PubMed Link: 27246988
Variant Present in the following documents:
  • srep26962-s1.pdf
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: BMP9: Thr304Met; rs75024165
PubMed Link: 22829878
Variant Present in the following documents:
  • Main text
  • pone.0040587.pdf
View BVdb publication page