Literature for peptidase C64.002: Cezanne-2 peptidase
(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)
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Garret,P., Ebstein,F., Delplancq,G., Dozieres-Puyravel,B., Boughalem,A., Auvin,S., Duffourd,Y., Klafack,S., Zieba,B.A., Mahmoudi,S., Singh,K.K., Duplomb,L., Thauvin-Robinet,C., Costa,J.M., Kruger,E., Trost,D., Verloes,A., Faivre,L. and Vitobello,A.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
Clin Genet97, 567-575. PubMed Europe PubMed DOI M
2020
