http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_head http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_assertion http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_assertion http://identifiers.org/ncbigene/9319 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/C1261175 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/DGNa68de6725e4a5bbac5930b8596122e99 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9319 http://rdf.disgenet.org/resource/gda/DGNa68de6725e4a5bbac5930b8596122e99 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1261175 http://rdf.disgenet.org/resource/gda/DGNa68de6725e4a5bbac5930b8596122e99 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_assertion http://purl.org/dc/terms/description [We conclude that the severity of pontocerebellar hypoplasia in the patient fits PCH2, while the large involvement of the cerebrum better corresponds to PCH4 demonstrating the phenotypic spectrum of PCH2 and 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_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/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23562994 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_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/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/dc/terms/created 2016-05-13T12:49:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1067050.RAyatQ_2Qt42MkCH32KT2hzN3n8nQPJb8BwhhJZS_KsLI 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