http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_head
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_assertion
http://identifiers.org/ncbigene/79848
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/C0014067
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/DGN884006798bd4f93bdd01ab265f32ba63
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/79848
http://rdf.disgenet.org/resource/gda/DGN884006798bd4f93bdd01ab265f32ba63
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0014067
http://rdf.disgenet.org/resource/gda/DGN884006798bd4f93bdd01ab265f32ba63
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_assertion
http://purl.org/dc/terms/description
[Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24360803
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/dc/terms/created
2016-05-13T12:50:22+02:00
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1138804.RARio1UUqw5CWtZ9dFDThB8rW6KLzWS7Y5lqicca3SzSI
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