Associated Papers
HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.
He N et al.
Clinical and Translational Medicine, 2023
37264743 (PubMed )
Supplement: CTM2-13-e1289-s002.docx
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Abdrabo LS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Chu J et al.
Molecular Genetics and Metabolism, 2016
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