Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_assertion> ?p ?o ?g. }
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- NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_assertion type Assertion NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_head.
- NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_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." NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_provenance.
- NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_assertion evidence source_evidence_literature NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_provenance.
- NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_assertion SIO_000772 23542699 NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_provenance.
- NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_assertion wasDerivedFrom befree-20150227 NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_provenance.
- NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_assertion wasGeneratedBy ECO_0000203 NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_provenance.