Associated Papers
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
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K et al.
American Journal of Human Genetics, 2019
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