Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.R159*
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CHKB

NM_005198.5:p.R159*

Associated Papers

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.

Magri F et al.

Skeletal Muscle, 2022

36175989 (PubMed )
Supplement: 13395_2022_306_MOESM1_ESM.pdf

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

Haliloglu G et al.

Journal of Inherited Metabolic Disease, 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."