Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion type Assertion NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_head.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion description "[A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion evidence source_evidence_literature NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion SIO_000772 8990006 NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion wasDerivedFrom gad-20130706 NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion wasGeneratedBy ECO_0000203 NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.