Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance.
- NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_assertion description "[A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance.
- NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_assertion evidence source_evidence_literature NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance.
- NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_assertion SIO_000772 17993581 NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance.
- NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_assertion wasDerivedFrom befree-2016 NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance.
- NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_assertion wasGeneratedBy ECO_0000203 NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance.
- befree-2016 importedOn "2016-02-19" NP639681.RAty8n1GtfA_zicvjRjGR0GezLvBHnhxSV7DdI1BvFx5s130_provenance.