Browsing by Author "Ruiz, Anna"
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The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome
Aguilera, Cinthia; Hümmer, Stefan; Masanas Jimenez, Marc; Gabau, Elisabeth; Guitart, Miriam; Jeyaprakash, A. Arockia; Segura Ginard, Miguel; Santamaria Margalef, Anna; Ruiz, Anna (Frontiers Media, 2021-05-26)