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A biallelic variant in COX18 cause isolated Complex IV defi..:
Ronchi, Dario
;
Garbellini, Manuela
;
Magri, Francesca
...
European Journal of Human Genetics. 31 (2023) 12 - p. 1414-1420 , 2023
Link:
https://doi.org/10.1038/s41431-023-01433-6
RT Journal T1
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41431-023-01433-6&Exemplar=1&LAN=DE A1 Ronchi, Dario A1 Garbellini, Manuela A1 Magri, Francesca A1 Menni, Francesca A1 Meneri, Megi A1 Bedeschi, Maria Francesca A1 Dilena, Robertino A1 Cecchetti, Valeria A1 Picciolli, Irene A1 Furlan, Francesca A1 Polimeni, Valentina A1 Salani, Sabrina A1 Pezzoli, Laura A1 Fortunato, Francesco A1 Bellini, Matteo A1 Piga, Daniela A1 Ripolone, Michela A1 Zanotti, Simona A1 Napoli, Laura A1 Ciscato, Patrizia A1 Sciacco, Monica A1 Mangili, Giovanna A1 Mosca, Fabio A1 Corti, Stefania A1 Iascone, Maria A1 Comi, Giacomo Pietro PB Springer Science and Business Media LLC YR 2023 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 31 IS 12 SP 1414 OP 1420 LK http://dx.doi.org/https://doi.org/10.1038/s41431-023-01433-6 DO https://doi.org/10.1038/s41431-023-01433-6 SF ELIB - SuUB Bremen
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