RecName: Full=Centrosome-associated protein CEP250; AltName: Full=250 - Protein

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High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. [Sci Rep. 2018]
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Fuster-García C, García-García G, Jaijo T, Fornés N, Ayuso C, Fernández-Burriel M, Sánchez-De la Morena A, Aller E, Millán JM. Sci Rep. 2018 Nov 20; 8(1):17113. Epub 2018 Nov 20.
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. [Ophthalmic Genet. 2018]
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.
Kubota D, Gocho K, Kikuchi S, Akeo K, Miura M, Yamaki K, Takahashi H, Kameya S. Ophthalmic Genet. 2018 Aug; 39(4):500-507. Epub 2018 May 2.
Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification. [Mol Biol Cell. 2017]
Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification.
Flanagan AM, Stavenschi E, Basavaraju S, Gaboriau D, Hoey DA, Morrison CG. Mol Biol Cell. 2017 Mar 15; 28(6):736-745. Epub 2017 Jan 18.

RefSeq genomic sequence
See the genomic reference sequence for the CEP250 gene (NG_051604.2).
RefSeq protein isoforms
See 50 reference sequence protein isoforms for the CEP250 gene.

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Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
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Protein