Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.K487T
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ACVRL1

NM_000020.3:p.K487T

Associated Papers

Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.

Jain K et al.

Journal of Clinical Medicine, 2023

38202257 (PubMed )
Supplement: jcm-13-00250-s001.zip › jcm-2748090-supplementary.pdf

Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.

Agnew C et al.

Nature Communications, 2021

34400635 (PubMed )
Supplement: 41467_2021_25248_MOESM1_ESM.pdf

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.

Fernández-L A et al.

Clinical Medicine & Research, 2006

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

Harrison RE et al.

Circulation, 2005

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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."