Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.A105Splc
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ACVRL1

NM_000020.3:p.A105Splc

Associated Papers

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

Pousada G et al.

Plos One, 2014

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf

Variation in telangiectasia predisposing genes is associated with overall radiation toxicity.

Tanteles GA et al.

International Journal of Radiation Oncology, Biology, Physics, 2012

Epistatic interactions in idiopathic pulmonary arterial hypertension.

Vadapalli S et al.

Indian Journal of Human Genetics, 2012

Identifying common genetic variants by high-resolution melting.

Vandersteen JG et al.

Clinical Chemistry, 2007

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

Abdalla SA et al.

European Journal of Human Genetics : Ejhg, 2003

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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."