Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion type Assertion NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_head.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion description "[Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion evidence source_evidence_curated NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion SIO_000772 22326532 NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion wasDerivedFrom uniprot-20130724 NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.
- NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_assertion wasGeneratedBy ECO_0000218 NP707.RAvFfOyAuM4kbHq_bV-B2MelhVFBCFx8mkHQtEaz85rxI130_provenance.