Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_assertion> ?p ?o ?g. }
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- NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_assertion type Assertion NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_head.
- NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_assertion description "[A frameshift mutation of P291 fsinsC (insertion of a C in a polyC tract around codon 291 for Pro), which would generate a mutant truncated protein of 340 amino acids, was found in a subject who started insulin treatment when hyperglycemia and ketonuria were noticed at 13 years of age.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_provenance.
- NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_assertion evidence source_evidence_literature NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_provenance.
- NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_assertion SIO_000772 9313763 NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_provenance.
- NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_assertion wasDerivedFrom befree-20150227 NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_provenance.
- NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_assertion wasGeneratedBy ECO_0000203 NP1007561.RA7B8kieskWOsi0SAY5N3Ue4RodyWmubLoqN8GjvDli9U130_provenance.