Associated Papers
Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.
Manoochehri J et al.
Journal of Genetics, 2022
Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
Murakami H et al.
Brain & Development, 2020
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