http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#head
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#assertion
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#provenance
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#assertion
http://rdf.disgenet.org/resource/gda/DGN42e21ee21ee2853b5173bbbe19d37549
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2332
http://rdf.disgenet.org/resource/gda/DGN42e21ee21ee2853b5173bbbe19d37549
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0016667
http://rdf.disgenet.org/resource/gda/DGN42e21ee21ee2853b5173bbbe19d37549
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#provenance
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#assertion
http://purl.org/dc/terms/description
[These findings suggested that analysis of (CGG)n repeat within the FMR1 gene by PCR technique could efficiently detect premutation carriers and that negative PCR products in mentally retarded males might highly imply the diagnosis of fragile X syndrome after the false negative results have been excluded by diplex PCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#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/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12840860
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#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/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/dc/terms/created
2017-10-17T13:12:48+02:00
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP413161.RA36tJnxppQQfBs7PYsO49AXuRyELtfI9n9t5P8yNkZ_I
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