Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion description "[Our study illustrates that ARX polyA expansions are primarily associated with syndromic MR and shows a higher yield (18% in our cohort) when these mutations are screened in familial cases of MR with epilepsy and/or dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion evidence source_evidence_literature NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion SIO_000772 21204215 NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion wasDerivedFrom befree-20140225 NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion wasGeneratedBy ECO_0000203 NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.