Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.F198del1
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ACVR1

NM_001111067.4:p.F198del1

Associated Papers

Variable signaling activity by FOP ACVR1 mutations.

Haupt J et al.

Bone, 2018

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

Kaplan FS et al.

Human Mutation, 2009

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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."