Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_assertion type Assertion NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_head.
- NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_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." NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_provenance.
- NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_assertion evidence source_evidence_literature NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_provenance.
- NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_assertion SIO_000772 23542699 NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_provenance.
- NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_assertion wasDerivedFrom befree-20150227 NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_provenance.
- NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_assertion wasGeneratedBy ECO_0000203 NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_provenance.