Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.
- NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_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." NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.
- NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_assertion evidence source_evidence_literature NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.
- NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_assertion SIO_000772 23542699 NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.
- NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_assertion wasDerivedFrom befree-2016 NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.
- NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_assertion wasGeneratedBy ECO_0000203 NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.