Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.V245M
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FLNC

NM_001458.5:p.V245M

Associated Papers

Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.

Sellung D et al.

Cells, 2023

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.

Velardo D et al.

Frontiers in Neurology, 2022

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Robertson SP et al.

American Journal of Medical Genetics. Part A, 2006

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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."