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1 Ergebnisse
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Bi‐allelicKARS1pathogenic variants affecting functions of c..:
Cappuccio, Gerarda
;
Ceccatelli Berti, Camilla
;
Baruffini, Enrico
...
Human Mutation. 42 (2021) 6 - p. 745-761 , 2021
Link:
https://doi.org/10.1002/humu.24210
RT Journal T1
Bi‐allelicKARS1pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.24210&Exemplar=1&LAN=DE A1 Cappuccio, Gerarda A1 Ceccatelli Berti, Camilla A1 Baruffini, Enrico A1 Sullivan, Jennifer A1 Shashi, Vandana A1 Jewett, Tamison A1 Stamper, Tara A1 Maitz, Silvia A1 Canonico, Francesco A1 Revah‐Politi, Anya A1 Kupchik, Gabriel S. A1 Anyane‐Yeboa, Kwame A1 Aggarwal, Vimla A1 Benneche, Andreas A1 Bratland, Eirik A1 Berland, Siren A1 D'Arco, Felice A1 Alves, Cesar A. A1 Vanderver, Adeline A1 Longo, Daniela A1 Bertini, Enrico A1 Torella, Annalaura A1 Nigro, Vincenzo A1 D'Amico, Alessandra A1 Knaap, Marjo S. A1 Goffrini, Paola A1 Brunetti‐Pierri, Nicola A1 Telethon Undiagnosed Diseases Program PB Hindawi Limited YR 2021 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 42 IS 6 SP 745 OP 761 LK http://dx.doi.org/https://doi.org/10.1002/humu.24210 DO https://doi.org/10.1002/humu.24210 SF ELIB - SuUB Bremen
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