Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RGD:1345925 | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:28492532 | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative | | ISO | RGD:1345925 | 8554872 | ClinVar Annotator: match by term: SCID more ... | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Structures of the human and Drosophila 80S ribosome. | Anger AM, etal., Nature. 2013 May 2;497(7447):80-5. doi: 10.1038/nature12104. |
| 2. | Relative and absolute quantification of postsynaptic density proteome isolated from rat forebrain and cerebellum. | Cheng D, etal., Mol Cell Proteomics. 2006 Jun;5(6):1158-70. doi: 10.1074/mcp.D500009-MCP200. Epub 2006 Feb 28. |
| 3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Selective high-efficiency cross-linking of mammalian ribosomal proteins with cleavable thiol-directed heterobifunctional reagents: identification and binding directions of major protein complexes. | Hultin T Biochim Biophys Acta. 1986 Aug 15;872(3):226-35. |
| 5. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 6. | Isolation of cDNAs representing dithiolethione-responsive genes. | Primiano T, etal., Carcinogenesis 1996 Nov;17(11):2297-303. |
| 7. | GOA pipeline | RGD automated data pipeline |
| 8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 9. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 10. | Differential expression of diacylglycerol kinase iota and L18A mRNAs in the brains of alcohol-preferring AA and alcohol-avoiding ANA rats. | Sommer W, etal., Mol Psychiatry. 2001 Jan;6(1):103-8; 5. |
| 11. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
| 12. | The EARP Complex and Its Interactor EIPR-1 Are Required for Cargo Sorting to Dense-Core Vesicles. | Topalidou I, etal., PLoS Genet. 2016 May 18;12(5):e1006074. doi: 10.1371/journal.pgen.1006074. eCollection 2016 May. |
| 13. | Isolation of eukaryotic ribosomal proteins. Purification and characterization of the 60 S ribosomal subunit proteins La, Lb, Lf, P1, P2, L13', L14, L18', L20, and L38. | Tsurugi K, etal., J Biol Chem. 1978 Feb 10;253(3):946-55. |
Additional References at PubMed
| PMID:2541017 | PMID:7654221 | PMID:12962325 | PMID:15489334 | PMID:19946888 | PMID:22658674 | PMID:22681889 | PMID:24625528 | PMID:25211037 | PMID:25957688 | PMID:30053369 |
Genomics
