Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.R258W
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ACVR1

NM_001111067.4:p.R258W

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

Multi-omics therapeutic perspective on ACVR1 gene: from genetic alterations to potential targeting.

Nagar G et al.

Briefings in Functional Genomics, 2023

Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes.

Hasegawa K et al.

Case Reports in Genetics, 2022

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.

Cappato S et al.

Molecular Genetics & Genomic Medicine, 2021

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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."