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
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.
Wiedemann A et al.
Cell Reports. Medicine, 2022
35764087 (PubMed )
Supplement: mmc1.pdf
The role of HCFC1 in syndromic and non-syndromic intellectual disability.
Castro VL et al.
Medical Research Archives, 2020
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Yu HC et al.
American Journal of Human Genetics, 2013
Select a paper to view details