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Biallelic pathogenic variants in the mitochondrial form of ..:
Sondheimer, Neal
;
Aleman, Alberto
;
Cameron, Jessie
...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100182 , 2023
Link:
https://doi.org/10.1016/j.xhgg.2023.100182
RT Journal T1
Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.xhgg.2023.100182&Exemplar=1&LAN=DE A1 Sondheimer, Neal A1 Aleman, Alberto A1 Cameron, Jessie A1 Gonorazky, Hernan A1 Sabha, Nesrin A1 Oliveira, Paula A1 Amburgey, Kimberly A1 Wahedi, Azizia A1 Wang, Dahai A1 Shy, Michael A1 Dowling., James J. PB Elsevier BV YR 2023 SN 2666-2477 JF Human Genetics and Genomics Advances VO 4 IS 2 SP 100182 LK http://dx.doi.org/https://doi.org/10.1016/j.xhgg.2023.100182 DO https://doi.org/10.1016/j.xhgg.2023.100182 SF ELIB - SuUB Bremen
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