http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#head
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#assertion
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#provenance
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#assertion
http://rdf.disgenet.org/resource/gda/DGNac1ea44503a969f60c18e2c0a2c7a722
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3975
http://rdf.disgenet.org/resource/gda/DGNac1ea44503a969f60c18e2c0a2c7a722
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1698581
http://rdf.disgenet.org/resource/gda/DGNac1ea44503a969f60c18e2c0a2c7a722
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#provenance
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#assertion
http://purl.org/dc/terms/description
[We could delineate three definitively relevant regions (1q21.1, 17q12, and 22q11.21) and suggest that LHX1 und HNF1B are candidate genes for MRKH syndrome, because we identified recurrent deletions affecting these genes and a possible causative missense mutation in LHX1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#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/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20797712
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#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/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/dc/terms/created
2017-10-17T13:14:18+02:00
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP645882.RA_SPjL6iH3fPjEA_RG_96szMIb8K25_Q0Z6ZMaw1DzYI
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