Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion> ?p ?o ?g. }
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- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion type Assertion NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_head.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion description "[A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion evidence source_evidence_curated NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion SIO_000772 19061983 NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion wasDerivedFrom uniprot-20130724 NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
- NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion wasGeneratedBy ECO_0000218 NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.