Botta, Elena ;
Theil, Arjan F ;
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Botta , E , Theil , A F , Raams , A , Caligiuri , G , Giachetti , S , Bione , S , Accadia , M , Lombardi , A , Smith , D E C , Mendes , M I , Swagemakers , S M A , Van Der Spek , P J , Salomons , G S , Hoeijmakers , J H J , Yesodharan , D , Nampoothiri , S , Ogi , T , Lehmann , A R , Orioli , D & Vermeulen , W 2021 , ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ' , Human Molecular Genetics , vol. 30 , no. 18 , pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123.
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2021