Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.P197_F198del1
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ACVR1

NM_001111067.4:p.P197_F198del1

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

Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.

De Brasi D et al.

Genes, 2021

Classical and atypical Fibrodysplasia Ossificans Progressiva in India.

Madhuri V et al.

Annals of Human Genetics, 2015

CNS demyelination in fibrodysplasia ossificans progressiva.

Kan L et al.

Journal of Neurology, 2012

Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.

Barnett CP et al.

American Journal of Medical Genetics. Part A, 2011

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."