Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.F246S
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ACVR1

NM_001111067.4:p.F246S

Associated Papers

Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.

Szoszkiewicz A et al.

Journal of Applied Genetics, 2026

A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

Rafati M et al.

European Journal of Medical Genetics, 2016

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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."