Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion description "[We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion evidence source_evidence_literature NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion SIO_000772 22715480 NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion wasDerivedFrom befree-2016 NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_assertion wasGeneratedBy ECO_0000203 NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.
- befree-2016 importedOn "2016-02-19" NP991567.RASnV2Z9BQSrM4QLetPbiaTSn_3mJadeLxG7WSdtSs4-4130_provenance.