Associated Papers
Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants.
Xi J et al.
Human Genomics, 2026
Domain specific phenotypic expansion associated with variants in MACF1.
Gogate N et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40666329 (PubMed )
Supplement: media-5.xlsx › Sheet2
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Dobyns WB et al.
American Journal of Human Genetics, 2018
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