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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (Sept, 10.1007/s00109-021-02124-9, 2021)

Luisa Averdunk, Heinrich Sticht, Harald Surowy, Hermann-Josef Luedecke, Margarete Koch-Hogrebe, Hessa S. Alsaif, Kimia Kahrizi, Hamad Alzaidan, Bashayer S. Alawam, Mohamed Tohary, Cornelia Kraus, Sabine Endele, Erin Wadman, Julie D. Kaplan, Stephanie Efthymiou, Hossein Najmabadi, Andre Reis, Fowzan S. Alkuraya, Dagmar Wieczorek

JOURNAL OF MOLECULAR MEDICINE-JMM(2021)

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