Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.Q201L
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ACVR1

NM_001111067.4:p.Q201L

Associated Papers

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.

Haupt J et al.

Human Molecular Genetics, 2014

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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."