Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.F198L
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ACVR1

NM_001111067.4:p.F198L

Associated Papers

Fibrodysplasia ossificans progressiva in a young adult with genetic mutation: Case report.

Wang Z et al.

Medicine, 2021

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.

Gregson CL et al.

Bone, 2011

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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."