Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion description "[We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N314D and R333W mutations, previously found in Caucasians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion evidence source_evidence_curated NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion SIO_000772 7550229 NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion wasDerivedFrom uniprot-20130724 NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion wasGeneratedBy ECO_0000218 NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.