Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.G291S
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GDF2

NM_016204.4:p.G291S

Associated Papers

Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia.

Oliver O et al.

Journal of Clinical Medicine, 2025

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.

Hodgson J et al.

Molecular Genetics & Genomic Medicine, 2021

Novel GDF2 Gene Mutation Associated with Pulmonary Arteriovenous Malformation.

Topiwala KK et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2020

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

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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."