http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#head
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#assertion
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#provenance
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#assertion
http://rdf.disgenet.org/resource/gda/DGN63b3ec552e2e4087cf4151e4809c8c13
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/26278
http://rdf.disgenet.org/resource/gda/DGN63b3ec552e2e4087cf4151e4809c8c13
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0745103
http://rdf.disgenet.org/resource/gda/DGN63b3ec552e2e4087cf4151e4809c8c13
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001123
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#provenance
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#assertion
http://purl.org/dc/terms/description
[Rare pathogenic alleles with high penetrance and associated haplotypes at 10 loci (CFTR, FAH, HBB, HEXA, LDLR, LPL, PAH, PABP2, PDDR, and SACS) are expressed in probands with cystic fibrosis, tyrosinemia, beta-thalassemia, Tay-Sachs, familial hypercholesterolemia, hyperchylomicronemia, PKU, oculopharyngeal muscular dystrophy, pseudo vitamin D deficiency rickets, and spastic ataxia of Charlevoix-Saguenay, respectively) reveal the interpopulation and intrapopulation genetic diversity of Quebec.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#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/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11701644
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#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/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/dc/terms/created
2017-10-17T13:18:20+02:00
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1279462.RAIJPLzRH6iBP-z6Y9qPOUDYJcAF5lBBcxw2xm_yTeKJY
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