Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance.
- NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_assertion description "[By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance.
- NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_assertion evidence source_evidence_literature NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance.
- NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_assertion SIO_000772 22560297 NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance.
- NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_assertion wasDerivedFrom befree-20150227 NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance.
- NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_assertion wasGeneratedBy ECO_0000203 NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_provenance.