Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance.
- NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_assertion description "[The common familial dysautonomia (FD) mutation results in tissue specific mis-splicing with reduced amount of wild-type (WT) IkappaB kinase associated protein gene (IKBKAP) mRNA and ELP1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance.
- NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_assertion evidence source_evidence_literature NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance.
- NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_assertion SIO_000772 18091349 NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance.
- NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_assertion wasDerivedFrom befree-2016 NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance.
- NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_assertion wasGeneratedBy ECO_0000203 NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance.
- befree-2016 importedOn "2016-02-19" NP646132.RAepOj_SuCZ8YqdnW8YPH9jH5-GOCgMy55qJr8sfDvTyo130_provenance.