http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#head
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#assertion
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#provenance
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#assertion
http://rdf.disgenet.org/resource/gda/DGN5a8668a04be243baa7510da1179f5b6e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/324
http://rdf.disgenet.org/resource/gda/DGN5a8668a04be243baa7510da1179f5b6e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0265325
http://rdf.disgenet.org/resource/gda/DGN5a8668a04be243baa7510da1179f5b6e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#provenance
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#assertion
http://purl.org/dc/terms/description
[The former appears to be mostly due to mutations in the APC gene, and the latter to mutations in mismatch repair (MMR) genes, so it would be better named as hereditary mismatch repair deficiency (HMRDS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15648180
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/dc/terms/created
2017-10-17T13:10:30+02:00
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP48719.RAGftWayGgVi6roEcgNSpgvFCh0bNBZGJCSmrqduEE8JM
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0