Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_assertion type Assertion NP334096.RA6X3fuePZLvIb6YE0IDYLFHu3aa_SRrSnR2iXqE5pKMw130_head.
- 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.