Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion type Assertion NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_head.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion description "[A Type A NPD patient of Asian Indian ancestry (proband 1) was homoallelic for a T to A transversion in exon 2 of the ASM gene which predicted a premature stop at codon 261 of the ASM polypeptide (designated L261X).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion evidence source_evidence_literature NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion SIO_000772 1618760 NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion wasDerivedFrom befree-20140225 NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.
- NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_assertion wasGeneratedBy ECO_0000203 NP555626.RACt0PGEEA80-VNZOGol_80frVsVmDwztOW-Fc6lZpzgY130_provenance.