Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.K400E
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ACVR1

NM_001111067.4:p.K400E

Associated Papers

Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.

Kato H et al.

Current Osteoporosis Reports, 2023

A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.

Katagiri T et al.

Nature Communications, 2023

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

Nagar G et al.

Briefings in Functional Genomics, 2023

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

Cappato S et al.

Molecular Genetics & Genomic Medicine, 2021

Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders.

Katagiri T et al.

Biomedicines, 2021

Design of primers for direct sequencing of nine coding exons in the human ACVR1 gene.

Matsuoka M et al.

Bone, 2020

Functional characterization of a unique mutant of ALK2, p.K400E, that is associated with a skeletal disorder, diffuse idiopathic skeletal hyperostosis.

Tsukamoto S et al.

Bone, 2020

Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.

Gupta A et al.

American Journal of Medical Genetics. Part A, 2019

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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."