Associated Papers
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Garret P et al.
Clinical Genetics, 2020
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Uddin M et al.
American Journal of Human Genetics, 2018
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