http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#head http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#assertion http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#provenance http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#assertion http://rdf.disgenet.org/resource/gda/DGN486f0306e1fdc311f8edea24a6b98d7c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4436 http://rdf.disgenet.org/resource/gda/DGN486f0306e1fdc311f8edea24a6b98d7c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0238196 http://rdf.disgenet.org/resource/gda/DGN486f0306e1fdc311f8edea24a6b98d7c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#provenance http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#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/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#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/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18781192 http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#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/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/dc/terms/created 2017-10-17T13:14:43+02:00 http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP711426.RAlsmx3l0t-E7y52CyXhZE9UKQLpskqKXfLhxSJnQogy4 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