Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_assertion> ?p ?o ?g. }
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- NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_assertion type Assertion NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_head.
- NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_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." NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_provenance.
- NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_assertion evidence source_evidence_literature NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_provenance.
- NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_assertion SIO_000772 8990006 NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_provenance.
- NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_assertion wasDerivedFrom gad-20150221 NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_provenance.
- NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_assertion wasGeneratedBy ECO_0000203 NP59936.RAY3cwaQt5_AtciidSL5kZwMnPjZoD42P_eSmagRDhRIY130_provenance.