Homo sapiens centrosomal protein 295 (CEP295), mRNA

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Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities. [EBioMedicine. 2024]
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, et al. EBioMedicine. 2024 Jan; 99:104940. Epub 2023 Dec 27.
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. [Nat Commun. 2023]
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets.
Mihalič F, Benz C, Kassa E, Lindqvist R, Simonetti L, Inturi R, Aronsson H, Andersson E, Chi CN, Davey NE, et al. Nat Commun. 2023 Sep 13; 14(1):5636. Epub 2023 Sep 13.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery. [Nat Commun. 2022]
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Havugimana PC, Goel RK, Phanse S, Youssef A, Padhorny D, Kotelnikov S, Kozakov D, Emili A. Nat Commun. 2022 Jul 13; 13(1):4043. Epub 2022 Jul 13.

RefSeq alternative splicing
See 41 reference mRNA sequence splice variants for the CEP295 gene.
RefSeq protein product
See the reference protein sequence for centrosomal protein of 295 kDa (NP_203753.1).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
Taxonomy sequences associated with Nucleotide record
Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
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OMIM
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PubMed (RefSeq)
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PubMed (Weighted)
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GenScript latest version of gene cDNA ORF Clone [GenScript latest version of g...]
GenScript latest version of gene cDNA ORF Clone
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