Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.E149K
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GDF2

NM_016204.4:p.E149K

Associated Papers

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

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

Gallego N et al.

Cells, 2021

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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."