Varaico: Literature-Extracted Genetic Variants

Gene:CFL2
Variant:p.K44R
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CFL2

NM_138638.5:p.K44R

Associated Papers

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

Agrawal PB et al.

American Journal of Human Genetics, 2007

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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."