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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHKB

Variant:p.E336_D337delFs

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CHKB

NM_005198.5:p.E336_D337delFs

hg38:chr22:50579747 ATCTT>A

Associated Papers

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

26067811 (PubMed )

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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."