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- source_evidence_literature type ECO_0000212 NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_provenance.
- NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_assertion description "[Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_provenance.
- NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_assertion evidence source_evidence_literature NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_provenance.
- NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_assertion SIO_000772 20686492 NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_provenance.
- NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_assertion wasDerivedFrom befree-2016 NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_provenance.
- NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_assertion wasGeneratedBy ECO_0000203 NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_provenance.
- befree-2016 importedOn "2016-02-19" NP830859.RAMl7iAKjhVQf21sPQDDO6MZHaXpTGFJO_qs9nJg_AnWM130_provenance.