http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#head http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#assertion http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#provenance http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#assertion http://rdf.disgenet.org/resource/gda/DGN165f6b935c6e61b4f4e4652d85efd381 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3054 http://rdf.disgenet.org/resource/gda/DGN165f6b935c6e61b4f4e4652d85efd381 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0042847 http://rdf.disgenet.org/resource/gda/DGN165f6b935c6e61b4f4e4652d85efd381 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#provenance http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#assertion http://purl.org/dc/terms/description [The other two variants displayed negative effects on the expression of the HCFC1 target gene MMACHC, which is responsible for the metabolism of cobalamin, suggesting that these individuals may also be susceptible to cobalamin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#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/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25740848 http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#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/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/dc/terms/created 2017-10-17T13:13:13+02:00 http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP478991.RA7VZOEszRNVTd5p984D3WCSjO9OGyJdYOXRa3b5bqvEU 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