Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_assertion type Assertion NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_head.
- NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_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." NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_provenance.
- NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_assertion evidence source_evidence_literature NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_provenance.
- NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_assertion SIO_000772 19061983 NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_provenance.
- NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_assertion wasDerivedFrom befree-2016 NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_provenance.
- NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_assertion wasGeneratedBy ECO_0000203 NP707724.RAHi3sSLruhdP49xN9O9O712seL8m8ikvGWwpG1vM3W1I130_provenance.