http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#head http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#assertion http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#provenance http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#assertion http://rdf.disgenet.org/resource/gda/DGNd7f15fb9f56ae0b32fd6473dbea92e28 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4436 http://rdf.disgenet.org/resource/gda/DGNd7f15fb9f56ae0b32fd6473dbea92e28 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007103 http://rdf.disgenet.org/resource/gda/DGNd7f15fb9f56ae0b32fd6473dbea92e28 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#provenance http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#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/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#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/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18781192 http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#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/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/dc/terms/created 2017-10-17T13:14:43+02:00 http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP711340.RAq-M5B9d7g8a7qRRqnFwx3YXe68CnGHtG2XGKNep0ILs 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