Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.H66P
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ACVRL1

NM_000020.3:p.H66P

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

Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.

Townson SA et al.

The Journal of Biological Chemistry, 2012

Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.

Scotti C et al.

Plos One, 2011

Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

Argyriou L et al.

International Journal of Molecular Medicine, 2006

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM et al.

Human Mutation, 2006

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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."