Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.L999_M1003del0
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FLNC

NM_001458.5:p.L999_M1003del0

Associated Papers

Structure and Function of Filamin C in the Muscle Z-Disc.

Mao Z et al.

International Journal of Molecular Sciences, 2020

Filamin C-related myopathies: pathology and mechanisms.

Fürst DO et al.

Acta Neuropathologica, 2013

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

Kley RA et al.

Brain : a Journal of Neurology, 2012

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Tasca G et al.

Muscle & Nerve, 2012

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Duff RM et al.

American Journal of Human Genetics, 2011

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Shatunov A et al.

European Journal of Human Genetics : Ejhg, 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."