Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_assertion> ?p ?o ?g. }
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- NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_assertion type Assertion NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_head.
- NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_assertion wasGeneratedBy ECO_0000203 NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_provenance.
- NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_assertion wasDerivedFrom befree-20150227 NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_provenance.
- NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_assertion SIO_000772 21544567 NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_provenance.
- NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_assertion evidence source_evidence_literature NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_provenance.
- NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_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." NP927930.RA-iUf5b7nnIp4-LD12T73uwgGJZEviGBDt_MTS7MU6KU130_provenance.