Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance.
- NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_assertion description "[Leukocyte adhesion deficiency type 1 (LAD I) is an autosomal recessive disorder caused by mutations in the ITGB2 gene, encoding the beta2 integrin family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance.
- NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_assertion evidence source_evidence_curated NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance.
- NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_assertion SIO_000772 20549317 NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance.
- NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_assertion wasDerivedFrom uniprot-20130724 NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance.
- NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_assertion wasGeneratedBy ECO_0000218 NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3336.RANRXBLb3V5PfZ8eJ32CA3qvVRRXJTA8Pi9yCDPVC9veg130_provenance.