Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_assertion> ?p ?o ?g. }
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- NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_assertion type Assertion NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_head.
- NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_assertion description "[Our report extends the list of known ALAS2 mutations, with the addition of a novel K156E substitution that is responsive to pyridoxine treatment and contributes to the general knowledge of congenital SA cases characterized worldwide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_provenance.
- NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_assertion evidence source_evidence_curated NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_provenance.
- NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_assertion SIO_000772 21252495 NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_provenance.
- NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_assertion wasDerivedFrom uniprot-2016 NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_provenance.
- NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_assertion wasGeneratedBy ECO_0000218 NP6496.RAutsWJZNoG9-Y1QH0z0shMcQuTm42wk3jRpZfd7JrehY130_provenance.