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  • Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

    Published in:
    2021
    By:
    • Sanderson, Leslie E;
    • Lanko, Kristina;
    • Alsagob, Maysoon;
    • Almass, Rawan;
    • Al-Ahmadi, Nada;
    • Najafi, Maryam;
    • Al-Muhaizea, Mohammad A;
    • Alzaidan, Hamad;
    • AlDhalaan, Hesham;
    • Perenthaler, Elena;
    • Linde, Herma C van der;
    • Nikoncuk, Anita;
    • Kühn, Nikolas A;
    • Antony, Dinu;
    • Owaidah, Tarek Mustafa;
    • Raskin, Salmo;
    • Vieira, Luana Gabriela Dalla Rosa;
    • Mombach, Romulo;
    • Ahangari, Najmeh;
    • Silveira, Tainá Regina Damaceno
    Publication type:
    journal article