GDF2 c.642G>A ;(p.W214*)

Variant ID: 10-48414226-C-T

NM_016204.1(GDF2):c.642G>A;(p.W214*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease.

Cells
Hernandez-Gonzalez, Ignacio I; Tenorio-Castano, Jair J; Ochoa-Parra, Nuria N; Gallego, Natalia N; Pérez-Olivares, Carmen C; Lago-Docampo, Mauro M; Palomino Doza, Julian J; Valverde, Diana D; Lapunzina, Pablo P; Escribano-Subias, Pilar P
Publication Date: 2021-06-13

Variant appearance in text: BMP9: 642G>A
PubMed Link: 34199176
Variant Present in the following documents:
  • Main text
  • cells-10-01488.pdf
View BVdb publication page



Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

Genes
Castaño, Jair Antonio Tenorio JAT; Hernández-Gonzalez, Ignacio I; Gallego, Natalia N; Pérez-Olivares, Carmen C; Ochoa Parra, Nuria N; Arias, Pedro P; Granda, Elena E; Acebo, Gonzalo Gómez GG; Lago-Docampo, Mauro M; Palomino-Doza, Julian J; López Meseguer, Manuel M; Del Cerro, María Jesús MJ; Pah Consortium, Spanish S; Valverde, Diana D; Lapunzina, Pablo P; Escribano-Subías, Pilar P
Publication Date: 2020-09-30

Variant appearance in text: GDF2: 642G>A; Trp214*
PubMed Link: 33007923
Variant Present in the following documents:
  • Main text
  • genes-11-01158.pdf
View BVdb publication page