Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A Associated Neurological Disorder
Lia Boyle, Lu Rao, Simranpreet Kaur…·Wendy K. Chung
This study links KIF1A variants to clinical severity in KAND by analyzing transport defects and protein dysfunction.
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