Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion> ?p ?o ?g. }
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- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion type Assertion NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_head.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion description "[Both patients had PDH deficiency caused by a new mutation (G585C) in the PDHA1 gene, which is predicted to replace a highly conserved glycine at codon 195 by alanine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion evidence source_evidence_literature NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion SIO_000772 18504677 NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion wasDerivedFrom befree-20140225 NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.
- NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_assertion wasGeneratedBy ECO_0000203 NP467856.RAEgPNV_0Rn6Cd1_bPlGA4pnzihH2rtCMn4vIpd0lJYAc130_provenance.