GDF2 c.329G>A ;(p.R110Q)

Variant ID: 10-48416365-C-T

NM_016204.1(GDF2):c.329G>A;(p.R110Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.

Respiratory Research
Eichstaedt, Christina A CA; Saßmannshausen, Zoe Z; Shaukat, Memoona M; Cao, Ding D; Xanthouli, Panagiota P; Gall, Henning H; Sommer, Natascha N; Ghofrani, Hossein-Ardeschir HA; Seyfarth, Hans-Jürgen HJ; Lerche, Marianne M; Halank, Michael M; Kleymann, Janina J; Benjamin, Nicola N; Harutyunova, Satenik S; Egenlauf, Benjamin B; Milger, Katrin K; Rosenkranz, Stephan S; Ewert, Ralf R; Klose, Hans H; Hoeper, Marius M MM; Olsson, Karen M KM; Lankeit, Mareike M; Lange, Tobias J TJ; Hinderhofer, Katrin K; Grünig, Ekkehard E
Publication Date: 2022-03-27

Variant appearance in text: GDF2: 329G>A
PubMed Link: 35346192
Variant Present in the following documents:
  • Main text
  • 12931_2022_Article_1987.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: GDF2: R110Q
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page