Varaico: Literature-Extracted Genetic Variants

Gene:CHKB
Variant:p.Y216*
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CHKB

NM_005198.5:p.Y216*

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

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

Cabrera-Serrano M et al.

Muscle & Nerve, 2015

Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab.

Palacios-Diaz RD et al.

Pediatric Dermatology, 0

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