Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance.
- NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_assertion wasGeneratedBy ECO_0000203 NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance.
- NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_assertion wasDerivedFrom lhgdn-20090331 NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance.
- NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_assertion SIO_000772 17847007 NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance.
- NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_assertion evidence source_evidence_literature NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance.
- NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_assertion description "[c.697G-- > T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in an autosomal recessive ectodermal dysplasia: odonto-onycho-dermal dysplasia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP130855.RApdv1Rg0dtKnLpTZ6WP_TISW9DlMIgaf613hnb4ZRnmI130_provenance.