Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.G416Splc
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ACVRL1

NM_000020.3:p.G416Splc

Associated Papers

Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital.

Karlsson T et al.

Upsala Journal of Medical Sciences, 2018

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