Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.R151*
Back to variants list

GDF2

NM_016204.4:p.R151*

Associated Papers

Marked improvement in severe pulmonary arterial hypertension following airway infection in a patient with a heterozygous BMP9 nonsense mutation: a case report.

Sakurai M et al.

European Heart Journal. Case Reports, 2025

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

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

Imafidon ME et al.

Frontiers in Pediatrics, 2021

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

van den Heuvel LM et al.

Genes, 2020

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.

Aukema SM et al.

American Journal of Medical Genetics. Part A, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."