Associated Papers
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Hills S et al.
American Journal of Medical Genetics. Part A, 2024
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
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