<http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg> <http://www.nanopub.org/nschema#hasAssertion> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#assertion> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#head> . <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg> <http://www.nanopub.org/nschema#hasProvenance> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#provenance> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#head> . <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg> <http://www.nanopub.org/nschema#hasPublicationInfo> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#publicationInfo> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#head> . <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.nanopub.org/nschema#Nanopublication> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#head> . <http://rdf.disgenet.org/resource/gda/DGN574ee2869cb3bdb98e62904a2ece9a17> <http://semanticscience.org/resource/SIO_000628> <http://identifiers.org/ncbigene/23347> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#assertion> . <http://rdf.disgenet.org/resource/gda/DGN574ee2869cb3bdb98e62904a2ece9a17> <http://semanticscience.org/resource/SIO_000628> <http://linkedlifedata.com/resource/umls/id/C0033626> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#assertion> . <http://rdf.disgenet.org/resource/gda/DGN574ee2869cb3bdb98e62904a2ece9a17> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://semanticscience.org/resource/SIO_001122> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#assertion> . <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#assertion> <http://purl.org/dc/terms/description> "[In patients presenting with an FSHD-like clinical phenotype with a negative molecular testing for FSHD, consider (1) detailed genetic testing including D4Z4 contraction of permissive hybrid D4Z4 repeat arrays, p13E-11 probe deletions, and D4Z4 hypomethylation in the absence of repeat contraction as observed in FSHD2; (2) mutations in CAPN3 even in the absence of protein deficiency on western blot analysis; and (3) VCP mutations even in the absence of cognitive impairment, Paget disease and typical inclusion in muscle biopsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#provenance> . <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#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/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#provenance> . <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#assertion> <http://semanticscience.org/resource/SIO_000772> <http://identifiers.org/pubmed/21984748> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#provenance> . <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#assertion> <http://www.w3.org/ns/prov#wasDerivedFrom> <http://rdf.disgenet.org/v5.0.0/void/BEFREE> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#provenance> . <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#assertion> <http://www.w3.org/ns/prov#wasGeneratedBy> <http://purl.obolibrary.org/obo/ECO_0000203> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#provenance> . <http://rdf.disgenet.org/v5.0.0/void/BEFREE> <http://purl.org/pav/importedOn> "2017-02-19"^^<http://www.w3.org/2001/XMLSchema#date> <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#provenance> . <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/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#provenance> . <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."@en <http://rdf.disgenet.org/resource/nanopub/NP1258079.RAZD04XuIZlT0b_crUadGrU193EXZwTYUXR-gEnfk5nSg#provenance> . <http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature> <http://www.w3.org/2000/01/rdf-schema#label> "DisGeNET evidence - 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