Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.I118F
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GDF2

NM_016204.4:p.I118F

Associated Papers

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

Oliver O et al.

Journal of Clinical Medicine, 2025

Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.

Jeon S et al.

Gigascience, 2024

38626723 (PubMed )
Supplement: giae014_supplemental_files.zip › Korea4K_TableS5_Supplementary_Material.xlsx › Sheet1

A GDF2 missense mutation potentially involved in the pathogenesis of hereditary hemorrhagic telangiectasia: a case report.

Ma L et al.

The Journal of International Medical Research, 2023

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."