Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.R317Q
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GDF2

NM_016204.4:p.R317Q

Associated Papers

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

Oliver O et al.

Journal of Clinical Medicine, 2025

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

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

Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia.

Hernandez F et al.

Human Genome Variation, 2015

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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."