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Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Pubmed ID: 
32652677
Year: 
2020
Month: 
Jul
Citation: 
Kaur S, Van Bergen NJ, Verhey KJ, Nowell CJ, Budaitis B, Yue Y, Ellaway C, Brunetti-Pierri N, Cappuccio G, Bruno I, Boyle L, Nigro V, Torella A, Roscioli T, Cowley MJ, Massey S, Sonawane R, Burton MD, Schonewolf-Greulich B, Tümer Z, Chung WK, Gold WA, Christodoulou J. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). HUMAN MUTATION (2020) PubMed