http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#head
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#assertion
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#provenance
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#assertion
http://rdf.disgenet.org/resource/gda/DGN3122955917b5b99d27c6b6e50686820c
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2131
http://rdf.disgenet.org/resource/gda/DGN3122955917b5b99d27c6b6e50686820c
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0015306
http://rdf.disgenet.org/resource/gda/DGN3122955917b5b99d27c6b6e50686820c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#provenance
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#assertion
http://purl.org/dc/terms/description
[These results corroborate and extend the previous report of mutations in this gene in two EXT families, and provide additional support for the EXT1 gene as the cause of hereditary multiple exostoses in families showing linkage to chromosome 8.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#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/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9150727
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#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/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/dc/terms/created
2017-10-17T13:12:33+02:00
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP372975.RA3-TiDnAprimOvjTLVKR2sTJCkfkI8wLJDRZNNN2q2wc
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