Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.R194G
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CHKB

NM_005198.5:p.R194G

Associated Papers

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.

Mitsuhashi S et al.

Current Opinion in Neurology, 2013

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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."