Literature for peptidase C64.002: Cezanne-2 peptidase

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates

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    2020
  1. 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