Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R93Q
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ENG

NM_001114753.3:p.R93Q

Associated Papers

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.

Proust C et al.

Communications Biology, 2025

40681766 (PubMed )
Supplement: 42003_2025_8461_MOESM4_ESM.xlsx › Supp._Data_3_mult._consequences

Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.

Wang MT et al.

International Journal of Molecular Sciences, 2024

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