Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.R484insFs
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ACVRL1

NM_000020.3:p.R484insFs

Associated Papers

Imaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.

Qin G et al.

Frontiers in Cardiovascular Medicine, 2025

40190465 (PubMed )
Supplement: Table2.pdf

Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.

Fujiwara M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

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