Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance.
- NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_assertion description "[Three additional families with likely pathogenic KIAA2022 mutations were discovered within the frame of systematic parallel sequencing of familial cases of XLID or in the context of routine array-CGH evaluation of sporadic intellectual deficiency (ID) cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance.
- NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_assertion evidence source_evidence_literature NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance.
- NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_assertion SIO_000772 23615299 NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance.
- NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_assertion wasDerivedFrom befree-20140225 NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance.
- NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_assertion wasGeneratedBy ECO_0000203 NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance.
- befree-20140225 importedOn "2014-02-25" NP523009.RA4tLpi6hlIUrKg7hN6oZNz2LaRqJ-xlWQoqnX41D459M130_provenance.