Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_assertion> ?p ?o ?g. }
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- NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_assertion type Assertion NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_head.
- NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_assertion description "[Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_provenance.
- NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_assertion evidence source_evidence_curated NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_provenance.
- NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_assertion SIO_000772 10571954 NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_provenance.
- NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_assertion wasDerivedFrom uniprot-2016 NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_provenance.
- NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_assertion wasGeneratedBy ECO_0000218 NP487.RA694zjsGyJILo2kCM_w32SIBTnHZ8eTzruyybZwxZhMM130_provenance.