Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.E143K
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GDF2

NM_016204.4:p.E143K

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

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

Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.

Eyries M 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."