Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance.
- NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_assertion description "[We examined 101 individuals with IHH (+/- anosmia) and their families to determine their modes of inheritance, incidence of mutations in the coding sequence of KAL, genotype-phenotype correlations, and [in a subset (n = 38)] their neuroendocrine phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance.
- NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_assertion evidence source_evidence_literature NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance.
- NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_assertion SIO_000772 11297579 NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance.
- NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_assertion wasDerivedFrom befree-20150227 NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance.
- NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_assertion wasGeneratedBy ECO_0000203 NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP620224.RAvKKwIJKVKfmc0_1EL7_Ly4752xlU38oMJgSHfIgO0L4130_provenance.