Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance.
- NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_assertion description "[Here we report a SCID associated with microcephaly caused by compound heterozygous hypomorphic mutations in Lig4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance.
- NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_assertion evidence source_evidence_literature NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance.
- NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_assertion SIO_000772 16358361 NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance.
- NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_assertion wasDerivedFrom befree-2016 NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance.
- NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_assertion wasGeneratedBy ECO_0000203 NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance.
- befree-2016 importedOn "2016-02-19" NP527280.RA2w4AuEjnKZODbRUCN331fq-_-pPsU2bm4mZZ8evp0C0130_provenance.