Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.A49P
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ACVRL1

NM_000020.3:p.A49P

Associated Papers

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

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.

Ricard N et al.

Blood, 2010

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA et al.

Journal of Medical Genetics, 2006

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

Harrison RE et al.

Journal of Medical Genetics, 2003

Disease-associated mutations in conserved residues of ALK-1 kinase domain.

Abdalla SA et al.

European Journal of Human Genetics : Ejhg, 2003

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.

Olivieri C et al.

Journal of Medical Genetics, 2002

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

Abdalla SA et al.

Human Molecular Genetics, 2000

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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."