GDF2 c.445G>A ;(p.E149K)

Variant ID: 10-48414423-C-T

NM_016204.1(GDF2):c.445G>A;(p.E149K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension.

Cells
Gallego, Natalia N; Cruz-Utrilla, Alejandro A; Guillén, Inmaculada I; Bonora, Amparo Moya AM; Ochoa, Nuria N; Arias, Pedro P; Lapunzina, Pablo P; Escribano-Subias, Pilar P; Nevado, Julián J; Tenorio-Castaño, Jair J
Publication Date: 2021-11-15

Variant appearance in text: GDF2: 445G>A
PubMed Link: 34831401
Variant Present in the following documents:
  • Main text
  • cells-10-03178.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: GDF2: E149K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-7.xlsx, sheet 1
View BVdb publication page