Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.R61delFs
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ACVRL1

NM_000020.3:p.R61delFs

Associated Papers

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.

Swietlik EM et al.

Circulation. Genomic and Precision Medicine, 2020

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J et al.

Clinical Genetics, 2011

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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."