Associated Papers
Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy.
Cotrina-Vinagre FJ et al.
Neurogenetics, 2025
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.
Oliveira J et al.
Journal of Human Genetics, 2015
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