Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.S320C
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GDF2

NM_016204.4:p.S320C

Associated Papers

Successfully Treating Pulmonary Arteriovenous Malformation and Pulmonary Arterial Hypertension in a Patient with GDF2 Variant.

Su J et al.

Archivos De Bronconeumologia, 2026

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

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

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

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM3_ESM.xlsx › Suppl._Dataset_3
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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."