Characterization of a novel inherited splice-site variant in MAPK8IP3 expands the genetic and phenotypic spectrum of neurodevelopmental disorders
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Background: The MAPK8IP3 gene encodes JIP3, a kinesin-1 adapter protein crucial for axonal transport and JNK signaling pathway regulation. This gene exhibits extreme intolerance to loss-of-function variants. Heterozygous pathogen... ...
