Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.
- NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_assertion description "[We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.
- NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_assertion evidence source_evidence_literature NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.
- NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_assertion SIO_000772 23542699 NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.
- NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_assertion wasDerivedFrom befree-20140225 NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.
- NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_assertion wasGeneratedBy ECO_0000203 NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.