Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance.
- NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_assertion description "[Our results demonstrate that the N-carbamyl-beta-amino aciduria in these patients is due to a deficiency of beta-ureidopropionase, which is caused by mutations in the UPB1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance.
- NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_assertion evidence source_evidence_curated NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance.
- NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_assertion SIO_000772 15385443 NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance.
- NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_assertion wasDerivedFrom uniprot-2016 NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance.
- NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_assertion wasGeneratedBy ECO_0000218 NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3657.RA3FcvWZFva5Kmk_-pCaBP_peLfMrGPE5xG9tR8hqj_a0130_provenance.