Varaico: Literature-Extracted Genetic Variants

Gene:INHBE
Variant:p.R206K
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INHBE

NM_031479.5:p.R206K

Associated Papers

The Use of Bone Biomarkers, Imaging Tools, and Genetic Tests in the Diagnosis of Rare Bone Disorders.

Alsarraf F et al.

Calcified Tissue International, 2025

Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva.

Li L et al.

Orthopaedic Surgery, 2024

Human iPSCs as Model Systems for BMP-Related Rare Diseases.

Sánchez-Duffhues G et al.

Cells, 2023

Successful experience of tofacitinib treatment in patients with Fibrodysplasia Ossificans Progressiva.

Nikishina IP et al.

Pediatric Rheumatology Online Journal, 2023

Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.

De Brasi D et al.

Genes, 2021

Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects.

Morales-Piga A et al.

Bone, 2012

Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.

Carvalho DR et al.

Clinical Genetics, 2010

Early diagnosis of fibrodysplasia ossificans progressiva.

Kaplan FS et al.

Pediatrics, 2008

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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."