http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_head http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion http://identifiers.org/ncbigene/617 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/C0001125 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/DGN4adbcc983214921ef708e8f055487bb3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/617 http://rdf.disgenet.org/resource/gda/DGN4adbcc983214921ef708e8f055487bb3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0001125 http://rdf.disgenet.org/resource/gda/DGN4adbcc983214921ef708e8f055487bb3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion http://purl.org/dc/terms/description [This report emphasizes the clinical heterogeneity associated with the mutation in BCS1L gene, even within the same family and we recommend that defects in this gene should be considered in the differential diagnosis of lactic acidosis with variable involvement of different organs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22991165 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/dc/terms/created 2016-05-13T12:49:25+02:00 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1014122.RAw5qbUKNjpQrYhe-HixKyuVU5IBwLdqgciPTS6-PSa1Y http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0