Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.Q321*
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ACVRL1

NM_000020.3:p.Q321*

Associated Papers

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.

Zhao S et al.

Nature Communications, 2023

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

Duran D et al.

Neuron, 2019

Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.

Giordano P et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

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

Lenato GM et al.

Human Mutation, 2006

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG et al.

Human Genetics, 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."