Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 7(41), p. 1232-1237, 2020
DOI: 10.1002/humu.24024
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Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome
Journal article published in 2020 by
Daniele Galatolo 
,
Molly E. Kuo,
Patrick Mullen,
Rebecca Meyer‐Schuman,
Stefano Doccini ,
Roberta Battini ,
Maria Lieto,
Alessandra Tessa ,
Alessandro Filla,
Christopher Francklyn,
Anthony Antonellis ,
Filippo M. Santorelli
,
Molly E. Kuo,
Patrick Mullen,
Rebecca Meyer‐Schuman,
Stefano Doccini ,
Roberta Battini ,
Maria Lieto,
Alessandra Tessa ,
Alessandro Filla,
Christopher Francklyn,
Anthony Antonellis ,
Filippo M. Santorelli
This paper is made freely available by the publisher.
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