Associated Papers
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
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Gahl WA et al.
Molecular Genetics and Metabolism, 2016
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR et al.
Molecular Genetics and Metabolism, 2014
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