Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance.
- NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_assertion description "[Recently, OCA4 was described as a new form of OCA in a single patient with a splice site mutation in the MATP gene (or AIM1), the human ortholog of the murine underwhite gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance.
- NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_assertion evidence source_evidence_literature NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance.
- NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_assertion SIO_000772 14722913 NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance.
- NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_assertion wasDerivedFrom befree-2016 NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance.
- NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_assertion wasGeneratedBy ECO_0000203 NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance.
- befree-2016 importedOn "2016-02-19" NP427974.RA3w1tarmuchyjX_E_FjbSF0lGueQgRfHKVn7bq_wwkZo130_provenance.