Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion> ?p ?o ?g. }
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- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion type Assertion NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_head.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_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." NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion evidence source_evidence_literature NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion SIO_000772 18504677 NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion wasDerivedFrom befree-20150227 NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.
- NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_assertion wasGeneratedBy ECO_0000203 NP614339.RAYOt5fG7kzgKCMZ1b1Da1GxKsmWQkvOR6-tE5ccxZk_g130_provenance.