Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A Associated Neurological Disorder
Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline M. Mebane, Laura Hamm, Andrew Thornton, Jared T. Ahrendsen, Matthew P. Anderson, John Christodoulou, Arne Gennerich, Yufeng Shen, Wendy K. Chung
This study links KIF1A variants to clinical severity in KAND by analyzing transport defects and protein dysfunction.
Human Genetics and Genomics Advances · Jan 30, 2021Peer-reviewedGenetic & Genomic Medicine