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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACVR1C

Variant:p.E229G

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ACVR1C

NM_145259.3:p.E229G

hg38:chr2:157550251 T>C

Associated Papers

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G et al.

Human Mutation, 2004

15024723 (PubMed )

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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."