http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_head http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_assertion http://identifiers.org/ncbigene/147495 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/C0030312 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/gene-disease-association.ttl#DGNb8c91b6a73e3540eb10a62cf25a8ff91 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/147495 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb8c91b6a73e3540eb10a62cf25a8ff91 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0030312 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb8c91b6a73e3540eb10a62cf25a8ff91 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_assertion http://purl.org/dc/terms/description [In addition to the previously described important signs of HHS, i.e., prenatal growth retardation, microcephaly, psychomotor retardation, progressive pancytopenia, immunological abnormalities, and cerebellar hypoplasia and ataxia, we consider that delayed myelination of cerebral white matter and hypoplastic corpus callosum should be added to the list of important signs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10963101 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/dc/terms/created 2014-10-02T12:37:16+02:00 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP527008.RAmWkKevoi0OZDSxyvwwuhJrIJslTYj2mQchaVT6gm3dg http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0