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1 Ergebnisse
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Next generation sequencing reveals novel compound heterozyg..:
Marshall, Aren E.
;
Brady, Lauren
;
Yeh, Ed
...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1002/ajmg.a.63590
RT Journal T1 <Title>Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63590&Exemplar=1&LAN=DE A1 Marshall, Aren E. A1 Brady, Lauren A1 Yeh, Ed A1 Mears, Alan J. A1 Lacaria, Melanie A1 Chakraborty, Pranesh A1 Tarnopolsky, Mark A. A1 Kernohan, Kristin D. PB Wiley YR 2024 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 194 IS 7 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63590 DO https://doi.org/10.1002/ajmg.a.63590 SF ELIB - SuUB Bremen
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