Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_assertion> ?p ?o ?g. }
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- NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_assertion type Assertion NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_head.
- NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_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." NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_provenance.
- NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_assertion evidence source_evidence_literature NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_provenance.
- NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_assertion SIO_000772 8990006 NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_provenance.
- NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_assertion wasDerivedFrom gad-20150221 NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_provenance.
- NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_assertion wasGeneratedBy ECO_0000203 NP191491.RACjcmFTKrCI3CNpfLwHMyzQk5054KcST5HW7-AWAnK9Y130_provenance.