Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_assertion> ?p ?o ?g. }
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- NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_assertion type Assertion NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_head.
- NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_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." NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_provenance.
- NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_assertion evidence source_evidence_curated NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_provenance.
- NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_assertion SIO_000772 10571954 NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_provenance.
- NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_assertion wasDerivedFrom uniprot-20150221 NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_provenance.
- NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_assertion wasGeneratedBy ECO_0000218 NP2362.RAO684GjYRg4Qi0xF5MDMP9Zsm6j2R3ZdRH96Qpvl9rMQ130_provenance.