http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_head
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_provenance
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
http://identifiers.org/ncbigene/2582
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/C0751161
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/DGNdbc42b03fa422158040c1a01ae0056c8
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2582
http://rdf.disgenet.org/resource/gda/DGNdbc42b03fa422158040c1a01ae0056c8
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0751161
http://rdf.disgenet.org/resource/gda/DGNdbc42b03fa422158040c1a01ae0056c8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_provenance
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
http://purl.org/dc/terms/description
[These results are consistent with the apparently benign status of peripheral epimerase deficiency galactosemia, but leave open the question of why patients with these substitutions demonstrate GALE deficiency in their red blood cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15639193
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221
http://purl.org/pav/importedOn
2015-02-21
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/dc/terms/created
2015-08-25T14:37:43+02:00
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
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