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Journal Article

Botta, Elena, Theil, Arjan F., Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E. C., Mendes, Marisa, I, Swagemakers, Sigrid M. A., Van der Spek, Peter J., Salomons, Gajja S., Hoeijmakers, Jan H. J., Yesodharan, Dhanya, Nampoothiri, Sheela ORCID: 0000-0002-9575-0722, Ogi, Tomoo, Lehmann, Alan R., Orioli, Donata and Vermeulen, Wim ORCID: 0000-0003-3616-734X (2021). Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Hum. Mol. Genet., 30 (18). S. 1711 - 1721. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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