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
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.
Gérard M et al.
European Journal of Medical Genetics, 2015
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Huang L et al.
American Journal of Human Genetics, 2012
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