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Paper Details

Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Am J Med Genet A
2
2022
Author NameAffiliation
Robert W TaylorTranslational and Clinical Research Institute, University of Newcastle
Robert W TaylorNewcastle Upon Tyne Hospitals NHS Foundation Trust
Dragana JosifovaGuy's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust
Frances Lucy RaymondUniversity of Cambridge
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Datasets

Release 1.2