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  • Autosomal recessive pathoge...
    Gerber, Sylvie; Lessard, Lola; Rouzier, Cécile; Ait‐el‐Mkadem Saadi, Samira; Ameli, Roxana; Thobois, Stéphane; Abouaf, Lucie; Bouhour, Françoise; Kaplan, Josseline; Putoux, Audrey; Pegat, Antoine; Rozet, Jean‐Michel

    EMBO molecular medicine, 07 August 2023, Letnik: 15, Številka: 8
    Journal Article

    Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).