Associated Papers
Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.
Hussain SI et al.
Bmc Medical Genomics, 2024
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
The role of HCFC1 in syndromic and non-syndromic intellectual disability.
Castro VL et al.
Medical Research Archives, 2020
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly LA et al.
Human Molecular Genetics, 2015
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