http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#head
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#assertion
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#provenance
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#assertion
http://rdf.disgenet.org/resource/gda/DGNf33fd74f008a8a5341859e40713ee5ea
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/472
http://rdf.disgenet.org/resource/gda/DGNf33fd74f008a8a5341859e40713ee5ea
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0004135
http://rdf.disgenet.org/resource/gda/DGNf33fd74f008a8a5341859e40713ee5ea
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#provenance
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#assertion
http://purl.org/dc/terms/description
[Here we report a novel pseudoexon-retaining deep intronic mutation (IVS28-159A>G; g.75117A>G based on GenBank U82828.1) in a patient with ataxia-telangiectasia (A-T), as well as the identification of a previously unrecognized alternative exon in the ATM gene (exon 28a) expressed in lymphoblastoid cell lines (LCL) derived from normal individuals. cDNA analysis using the A-T patient's LCL showed the retention of two aberrant intronic segments of 112 and 190 nt between exons 28 and 29.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#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/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15643608
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#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/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/dc/terms/created
2017-10-17T13:10:46+02:00
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP91393.RAp5HL_6-ZQF3aYnp6CI5M6L8V8J6Ov4gdRPyKOFWychY
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