Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.G371_T372insFs
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ACVRL1

NM_000020.3:p.G371_T372insFs

Associated Papers

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.

Charoute H et al.

Human Mutation, 2015

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.

Waite KA et al.

Nature Reviews. Genetics, 2003

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.

Abdalla SA et al.

Journal of Medical Genetics, 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."