Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.R110Q
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GDF2

NM_016204.4:p.R110Q

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

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.

Eichstaedt CA et al.

Respiratory Research, 2022

Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension.

Wang XJ et al.

The European Respiratory Journal, 2019

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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."