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