Associated Papers
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.
Zhang Y et al.
Italian Journal of Pediatrics, 2022
Calcium/Calmodulin-dependent Serine Protein Kinase-associated Neuro-gastrointestinal Disorder: First Report of a Patient With Hirschsprung's Disease.
Tian M et al.
Journal of Neurogastroenterology and Motility, 2020
Structural Basis for the High-Affinity Interaction between CASK and Mint1.
Wu X et al.
Structure (london, England : 1993), 2020
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