Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.A49fs
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ACVRL1

NM_000020.3:p.A49fs

Associated Papers

Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.

Sadick H et al.

Bmc Medical Genetics, 2009

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.

Fontalba A et al.

Bmc Medical Genetics, 2008

18673552 (PubMed )
Supplement: 1471-2350-9-75-S2.xls › Hoja1
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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."