Associated Papers
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder.
Sudnawa KK et al.
Clinical Genetics, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Kárteszi J et al.
American Journal of Medical Genetics. Part A, 2023
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S et al.
Annals of Neurology, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K et al.
American Journal of Human Genetics, 2019
Select a paper to view details