Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.H350R
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CHKB

NM_005198.5:p.H350R

Associated Papers

Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB.

Gong Z et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

A rare homozygous variant of CHKB induced severe cardiomyopathy and a cardiac conduction disorder: a case report.

Jing S et al.

Frontiers in Cardiovascular Medicine, 2024

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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."