Associated Papers
Pathogenic KIF5C mutation disrupts dendritic spine maturation and mitochondrial trafficking in neurodevelopmental disorders.
Wang X et al.
Neurobiology of Disease, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.
Gracie S et al.
American Journal of Medical Genetics. Part A, 2025
A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.
Banerjee S et al.
Medcomm, 2024
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