Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.I248_L249insT
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CHKB

NM_005198.5:p.I248_L249insT

Associated Papers

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

Vanlander AV et al.

Mitochondrion, 2016

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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."