Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.R110W
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GDF2

NM_016204.4:p.R110W

Associated Papers

Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.

Grynblat J et al.

The European Respiratory Journal, 2024

Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity.

Chomette L et al.

American Journal of Medical Genetics. Part A, 2023

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

Upton P et al.

American Journal of Medical Genetics. Part A, 2023

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.

Cruz-Utrilla A et al.

International Journal of Molecular Sciences, 2022

36142358 (PubMed )
Supplement: ijms-23-10433-s001.zip › Table_S1.pdf

New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis.

Aldred MA et al.

Circulation Research, 2022

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

Gallego N et al.

Cells, 2021

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

van den Heuvel LM et al.

Genes, 2020

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

Hodgson J et al.

American Journal of Respiratory and Critical Care Medicine, 2020

Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension.

Wang XJ et al.

The European Respiratory Journal, 2019

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."