http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#head http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#assertion http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#provenance http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#assertion http://rdf.disgenet.org/resource/gda/DGNb3a34d7a31550b77eea9de9ae2711005 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/157680 http://rdf.disgenet.org/resource/gda/DGNb3a34d7a31550b77eea9de9ae2711005 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1857627 http://rdf.disgenet.org/resource/gda/DGNb3a34d7a31550b77eea9de9ae2711005 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#provenance http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#assertion http://purl.org/dc/terms/description [From this study and a review of more than 160 genotyped cases from the literature, it is concluded that, given the large size of the gene, VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#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/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20656880 http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#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/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/dc/terms/created 2017-10-17T13:19:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1411615.RAjNzTfEmnrAeNeWCzaujNRU5G8nbINyGmMcl0UzqGE2M 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