Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP22697.RAG09um8OQF7i8MZzDj7M06ADR7LplgRsxynx1PKFyzZc#assertion> ?p ?o ?g. }
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- assertion description "[a homozygous p.W1327X mutation leads to severe generalized glycogenosis types 3a & 3b within the same family; heterozygous p.W1327X mutation carriers may present with mild non-progressive neuromuscular symptoms, such as exercise-induced myalgia & fatigue]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18924225 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.