Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A2
Variant:p.M9R
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SLC3A2

NM_001013251.3:p.M9R

Associated Papers

Tropomodulin isoforms regulate thin filament pointed-end capping and skeletal muscle physiology.

Gokhin DS et al.

The Journal of Cell Biology, 2010

Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.

Clarke NF

Advances in Experimental Medicine and Biology, 2008

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.

Michele DE et al.

The Journal of Clinical Investigation, 1999

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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."