Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder
Khemika Khemakanok Sudnawa, Wenxing Li, Sean Calamia…·Wendy K. Chung
The paper reports clinical phenotypes and longitudinal adaptive function in KIF1A-associated neurological disorder and correlates them with computational predictions of genotype severity.
15 citations