Associated Papers
A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.
Pantalone G et al.
American Journal of Medical Genetics. Part A, 2024
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O et al.
International Journal of Molecular Sciences, 2022
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L et al.
Human Genetics, 2018
Novel mutations target distinct subgroups of medulloblastoma.
Robinson G et al.
Nature, 2012
22722829 (PubMed )
Supplement: NIHMS374717-supplement-table_5.xlsx › Tier1
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