Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A11
Variant:p.A243V
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SLC2A11

NM_001024939.4:p.A243V

Associated Papers

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Penttilä S et al.

Annals of Neurology, 2015

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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."