http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#head
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#assertion
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#provenance
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#assertion
http://rdf.disgenet.org/resource/gda/DGNb7676aa3cd8d4f56139a6baf3fe3548e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4360
http://rdf.disgenet.org/resource/gda/DGNb7676aa3cd8d4f56139a6baf3fe3548e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0009402
http://rdf.disgenet.org/resource/gda/DGNb7676aa3cd8d4f56139a6baf3fe3548e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#provenance
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#assertion
http://purl.org/dc/terms/description
[Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#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/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18781192
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#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/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/dc/terms/created
2017-10-17T13:14:42+02:00
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP708729.RAG9TKy9WHH0lY2VWGXCapIDF3jMSexR8kyJoE6r0pOsw
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