Associated Papers
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Al Busaidi M et al.
Orphanet Journal of Rare Diseases, 2023
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake.
Oishi K et al.
Journal of Human Genetics, 2021
Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?
Al-Murshedi F et al.
European Journal of Medical Genetics, 2019
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