Varaico: Literature-Extracted Genetic Variants

Gene:CFL2
Variant:p.V7M
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CFL2

NM_138638.5:p.V7M

Associated Papers

Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.

Christophers B et al.

Journal of Child Neurology, 2022

Cofilin Loss in Drosophila Muscles Contributes to Muscle Weakness through Defective Sarcomerogenesis during Muscle Growth.

Balakrishnan M et al.

Cell Reports, 2020

Expanding the histopathological spectrum of CFL2-related myopathies.

Fattori F et al.

Clinical Genetics, 2018

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.

Ong RW et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2014

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Ockeloen CW et al.

Neuromuscular Disorders : Nmd, 2012

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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."