Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance.
- NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_assertion description "[Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance.
- NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_assertion evidence source_evidence_curated NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance.
- NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_assertion SIO_000772 21837770 NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance.
- NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_assertion wasDerivedFrom uniprot-20150221 NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance.
- NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_assertion wasGeneratedBy ECO_0000218 NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP315.RARWtVAbX2yg1p6q2F5J_6d_rtYInsY3xWJM7T6qsBINk130_provenance.