http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_head
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_assertion
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_provenance
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_assertion
http://identifiers.org/ncbigene/55624
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/C0020255
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/DGNc4630b803192cf1cc91a66c366afe7eb
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/55624
http://rdf.disgenet.org/resource/gda/DGNc4630b803192cf1cc91a66c366afe7eb
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0020255
http://rdf.disgenet.org/resource/gda/DGNc4630b803192cf1cc91a66c366afe7eb
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_provenance
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_assertion
http://purl.org/dc/terms/description
[We also observed a slight correlation between the location of the mutation and clinical severity in the brain: patients with mutations near the 5' terminus of the POMGnT1 coding region show relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3' terminus have milder phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12588800
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/dc/terms/created
2015-08-25T14:47:01+02:00
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP919489.RAB2nEyQmxM5O64pun0T_eDG5oG2WlHvIJfYP5BGRu6Ng
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0