http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_head
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_provenance
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
http://identifiers.org/ncbigene/2131
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0015306
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGNaf67b088219203aceed6fff932212599
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2131
http://rdf.disgenet.org/resource/gda/DGNaf67b088219203aceed6fff932212599
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0015306
http://rdf.disgenet.org/resource/gda/DGNaf67b088219203aceed6fff932212599
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_provenance
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
http://purl.org/dc/terms/description
[Our study of 36 EXT Chinese families has found that EXT1 seems much less common in the Chinese population, although the frequency of the EXT2 mutation is similar in the Caucasian and Chinese populations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10480354
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/uniprot-2016
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/v4.0.0/void/uniprot-2016
http://purl.org/pav/importedOn
2016-01-25
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/dc/terms/created
2016-05-13T12:41:50+02:00
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0