RecName: Full=Exosome complex component RRP40; AltName: Full=Exosome c - Protein

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Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation. [Pediatr Nephrol. 2022]
Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation.
Van Quekelberghe C, Latta K, Kunzmann S, Grohmann M, Hansen M. Pediatr Nephrol. 2022 Nov; 37(11):2781-2784. Epub 2022 May 6.
Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form. [BMJ Case Rep. 2021]
Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.
Mu W, Heller T, Barañano KW. BMJ Case Rep. 2021 Jan 18; 14(1). Epub 2021 Jan 18.
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. [Mitochondrion. 2017]
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.
Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M. Mitochondrion. 2017 Nov; 37:46-54. Epub 2017 Jul 4.

RefSeq protein isoforms
See 2 reference sequence protein isoforms for the EXOSC3 gene.

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Q9NQT5 [Domain Mapping of Disease Mut...]
Q9NQT5
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
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reagent reviews [ExactAntigen/Labome]
reagent reviews
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Evolutionary Trace of Functional Site

RecName: Full=Exosome complex component RRP40; AltName: Full=Exosome component 3...
RecName: Full=Exosome complex component RRP40; AltName: Full=Exosome component 3; AltName: Full=Ribosomal RNA-processing protein 40; AltName: Full=p10
gi|14285758|sp|Q9NQT5.3|EXOS3_HUMAN

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