http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#head
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#assertion
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#provenance
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#assertion
http://rdf.disgenet.org/resource/gda/DGN267a49644219bd091eda4199c4d814c2
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/55624
http://rdf.disgenet.org/resource/gda/DGN267a49644219bd091eda4199c4d814c2
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0457133
http://rdf.disgenet.org/resource/gda/DGN267a49644219bd091eda4199c4d814c2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#provenance
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#assertion
http://purl.org/dc/terms/description
[While initially a clear correlation between gene defect and phenotype was observed for each of these 6 genes (for example, Walker Warburg syndrome was associated with mutations in POMT1 and POMT2, Fukuyama congenital muscular dystrophy associated with fukutin mutations, and Muscle Eye Brain disease associated with POMGnT1 mutations), we have recently demonstrated that allelic mutations in each of these 6 genes can result in a much wider spectrum of clinical conditions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#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/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18646561
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#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/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/dc/terms/created
2017-10-17T13:18:40+02:00
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1335270.RAZkdPL7j5LYbCmpVsv6woBN0bM9tx0akzVVLyQmWVgNs
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