Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_assertion> ?p ?o ?g. }
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- NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_assertion type Assertion NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_head.
- NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_assertion description "[Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_provenance.
- NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_assertion evidence source_evidence_literature NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_provenance.
- NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_assertion SIO_000772 18294203 NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_provenance.
- NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_assertion wasDerivedFrom befree-20150227 NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_provenance.
- NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_assertion wasGeneratedBy ECO_0000203 NP633500.RAmcSRCXxs2e1CkAvkesq9J5ZGYVIxWcjxS3bPGQfJ1RA130_provenance.