Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion description "[We identified one heterozygous 310-kb deletion of the PAX6 enhancer region in one patient showing isolated GH deficiency (IGHD), cleft palate, and optic disc cupping.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion evidence source_evidence_literature NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion SIO_000772 25342853 NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion wasDerivedFrom befree-20150227 NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_assertion wasGeneratedBy ECO_0000203 NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP610346.RAZg62zqPg_TPrq0FhS6EV2-OwV1lEOUGxOtGHlz9EdiU130_provenance.