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, Cara H. Kanner, Jennifer Bain, Aliaa H. Abdelhakim, Alexa Geltzeiler, Caroline M. Mebane, Frank A. Provenzano, Tristan T. Sands, Robert J. Fee, Jacqueline Montes, Yufeng Shen, 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.
Genetics in Medicine · May 20, 2024Peer-reviewedGenetic & Genomic Medicine