Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_assertion> ?p ?o ?g. }
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- NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_assertion type Assertion NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_head.
- NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_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." NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_provenance.
- NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_assertion evidence source_evidence_literature NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_provenance.
- NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_assertion SIO_000772 19061983 NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_provenance.
- NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_assertion wasDerivedFrom befree-20150227 NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_provenance.
- NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_assertion wasGeneratedBy ECO_0000203 NP817317.RA-6DGMCCzGMJfeS26bpHLc3OP0tuGt2Yxaj6BsqVXt9w130_provenance.