Associated Papers
A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.
Zanotta N et al.
Seizure, 2024
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Sterling N et al.
Human Molecular Genetics, 2020
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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