Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 6(42), p. 745-761, 2021
DOI: 10.1002/humu.24210
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Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
Journal article published in 2021 by
Alves CA; Alves C; Alves Capf 
,
Marjo van der Knaap,
Gerarda Cappuccio,
Camilla Ceccatelli Berti,
Enrico Baruffini,
Jennifer Sullivan,
Vandana Shashi,
Tamison Jewett,
Tara Stamper,
Silvia Maitz,
Francesco Canonico,
Anya Revah‐Politi,
Gabriel S. Kupchik,
Kwame Anyane‐Yeboa,
Vimla Aggarwal
and other authors.
,
Marjo van der Knaap,
Gerarda Cappuccio,
Camilla Ceccatelli Berti,
Enrico Baruffini,
Jennifer Sullivan,
Vandana Shashi,
Tamison Jewett,
Tara Stamper,
Silvia Maitz,
Francesco Canonico,
Anya Revah‐Politi,
Gabriel S. Kupchik,
Kwame Anyane‐Yeboa,
Vimla Aggarwal
and other authors.
This paper is made freely available by the publisher.
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