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bibliographicCitation Galatolo D, Kuo ME, Mullen P, Meyer‐Schuman R, Doccini S, Battini R, Lieto M, Tessa A, Filla A, Francklyn C, Antonellis A, Santorelli FM. Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. Human Mutation. 2020 Apr 29;41(7):1232–7. doi: 10.1002/humu.24024.
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title Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome
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