Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance.
- NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_assertion description "[Patients homozygous for the W1282X mutation (n = 16) and patients heterozygous for the delta F508 and W1282X mutations (n = 22) had similarly severe disease, reflected by pancreatic insufficiency, high incidence of meconium ileus (37% and 27%, respectively), early age at diagnosis, poor nutritional status, and variable pulmonary function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance.
- NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_assertion evidence source_evidence_literature NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance.
- NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_assertion SIO_000772 1370365 NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance.
- NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_assertion wasDerivedFrom befree-20140225 NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance.
- NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_assertion wasGeneratedBy ECO_0000203 NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP492332.RA-N8gC7daz5LtNYluFdKahxFbQqopienUFN0WgyK9GvI130_provenance.