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    Recessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects

    Recessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects by Molly E. Kuo, Kira E. Jonatzke, Maclaine Parish, Anthony Antonellis

    Published 2025-06-01
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  2. 2
    Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

    Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype by Christina Del Greco, Molly E. Kuo, Desiree E. C. Smith, Marisa I. Mendes, Gajja S. Salamons, Marek Nemcovic, Rebeka Kodrikova, Sergej Sestak, Malina Stancheva, Anthony Antonellis

    Published 2025-02-01
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