Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance.
- NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_assertion description "[Investigation for GATA3 mutations in three other HDR probands identified one nonsense mutation and two intragenic deletions that predicted a loss of function, as confirmed by absence of DNA binding by the mutant GATA3 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance.
- NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_assertion evidence source_evidence_literature NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance.
- NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_assertion SIO_000772 10935639 NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance.
- NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_assertion wasDerivedFrom befree-2016 NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance.
- NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_assertion wasGeneratedBy ECO_0000203 NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance.
- befree-2016 importedOn "2016-02-19" NP291521.RAn0nkw3HNLDHxFGZrEYlw-coWsuPN0bNbPzX1XtELtjk130_provenance.