Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_assertion> ?p ?o ?g. }
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- NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_assertion type Assertion NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_head.
- NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_assertion wasGeneratedBy ECO_0000203 NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_provenance.
- NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_assertion wasDerivedFrom befree-2016 NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_provenance.
- NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_assertion SIO_000772 21544567 NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_provenance.
- NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_assertion evidence source_evidence_literature NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_provenance.
- NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_assertion description "[While CGI-58 mutations are associated with Chanarin-Dorfman syndrome, a condition characterized by lipid storage and skin involvement (ichthyosis), mutations in the patatin-like phospholipase domain-containing protein 2 gene (PNPLA2) were reported with skeletal and cardiac muscle disease only.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP891869.RA9ZD6dyVZkXup6zec7STadpiz0nPq8APaI-GiFZH6POA130_provenance.