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Identification of two novel RRM2B variants associated with ..:
Restrepo-Vera, Juan Luis
;
Rovira-Moreno, Eulàlia
;
Ramón, Javier
...
Journal of Human Genetics. 68 (2023) 8 - p. 527-532 , 2023
Link:
https://doi.org/10.1038/s10038-023-01144-2
RT Journal T1
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s10038-023-01144-2&Exemplar=1&LAN=DE A1 Restrepo-Vera, Juan Luis A1 Rovira-Moreno, Eulàlia A1 Ramón, Javier A1 Codina-Sola, Marta A1 Llauradó, Arnau A1 Salvadó, Maria A1 Sánchez-Tejerina, Daniel A1 Sotoca, Javier A1 Martínez-Sáez, Elena A1 Martí, Ramon A1 García-Arumí, Elena A1 Juntas-Morales, Raul PB Springer Science and Business Media LLC YR 2023 SN 1434-5161 SN 1435-232X JF Journal of Human Genetics VO 68 IS 8 SP 527 OP 532 LK http://dx.doi.org/https://doi.org/10.1038/s10038-023-01144-2 DO https://doi.org/10.1038/s10038-023-01144-2 SF ELIB - SuUB Bremen
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