Varaico: Literature-Extracted Genetic Variants

Gene:DCAF8
Variant:p.R317C
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DCAF8

NM_015726.4:p.R317C

Associated Papers

Cullin 4-DCAF Proteins in Tumorigenesis.

Zhou Z et al.

Advances in Experimental Medicine and Biology, 2020

Muscle-restricted nuclear receptor interaction protein knockout causes motor neuron degeneration through down-regulation of myogenin at the neuromuscular junction.

Chen HH et al.

Journal of Cachexia, Sarcopenia and Muscle, 2018

Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.

Klein CJ et al.

Neurology, 2014

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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."