Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.R68L
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GDF2

NM_016204.4:p.R68L

Associated Papers

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

Oliver O et al.

Journal of Clinical Medicine, 2025

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

Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5.

Farhan A et al.

American Journal of Medical Genetics. Part A, 2022

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

Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia.

Tillet E et al.

Frontiers in Genetics, 2014

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

Wooderchak-Donahue WL et al.

American Journal of Human Genetics, 2013

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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."