Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.P85L
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GDF2

NM_016204.4:p.P85L

Associated Papers

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

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.

Aukema SM et al.

American Journal of Medical Genetics. Part A, 2020

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Abou Hassan OK et al.

Bmc Medical Genetics, 2018

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."