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Mutational spectrum and clinical signatures in 114 families..:
Fusco, Carmela
;
Nardella, Grazia
;
Fischetto, Rita
...
Human Molecular Genetics. 28 (2019) 13 - p. 2133-2142 , 2019
Link:
https://doi.org/10.1093/hmg/ddz046
RT Journal T1
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddz046&Exemplar=1&LAN=DE A1 Fusco, Carmela A1 Nardella, Grazia A1 Fischetto, Rita A1 Copetti, Massimiliano A1 Petracca, Antonio A1 Annunziata, Francesca A1 Augello, Bartolomeo A1 D'Asdia, Maria Cecilia A1 Petrucci, Simona A1 Mattina, Teresa A1 Rella, Annalisa A1 Cassina, Matteo A1 Bengala, Mario A1 Biagini, Tommaso A1 Causio, Francesco Andrea A1 Caldarini, Camilla A1 Brancati, Francesco A1 De Luca, Alessandro A1 Guarnieri, Vito A1 Micale, Lucia A1 D'Agruma, Leonardo A1 Castori, Marco PB Oxford University Press (OUP) YR 2019 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 28 IS 13 SP 2133 OP 2142 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddz046 DO https://doi.org/10.1093/hmg/ddz046 SF ELIB - SuUB Bremen
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