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Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

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Description scientific article published on 11 May 2021
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author: Enrico Baruffini  Gerarda Cappuccio  Siren Berland  Vandana Shashi  Camilla Ceccatelli Berti  Marjo van der Knaap  Nicola Brunetti-Pierri  Enrico Bertini 

Publication date May 11, 2021
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