Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study
Monika Duś-Żuchowska(Poznan University of Medical Sciences), Jarosław Walkowiak(Poznan University of Medical Sciences), Dorota Piekutowska‐Abramczuk(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Dariusz Rokicki(Children's Memorial Health Institute), Łukasz Kałużny(Poznan University of Medical Sciences), Hanna Nowak(Poznan University of Medical Sciences)
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