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Paper Details

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Hum Mutat
16
2020
ATP, Asp248Glu, Cys92Arg, KAND, KIF1A, KIF1A motor domain, KIF1A variants, KIF1A-associated neurological disorders, NP_001230937, Pro305Leu, Pro305Leu), RTT, Rett syndrome, SH-SY5Y cells, Thr99Met, kinesin family member 1A, microtubule, microtubules, neurodevelopmental disorder, neurological conditions, p, variant p
Author NameAffiliation
Tony Roscioli
Tony RoscioliUniversity of New South Wales
Mark J CowleyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Mark J CowleySt Vincent's Clinical School
Mark J CowleyChildren's Cancer Institute, Lowy Cancer Research Centre
Wendy K ChungColumbia University Medical Center
Wendy K ChungColumbia University Medical Center
John ChristodoulouMurdoch Children's Research Institute, Royal Children's Hospital
John ChristodoulouUniversity of Melbourne
John ChristodoulouUniversity of Sydney
John ChristodoulouVictorian Clinical Genetics Services, Royal Children's Hospital
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Release 1.2