Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_assertion> ?p ?o ?g. }
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- NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_assertion type Assertion NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_head.
- NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_assertion wasGeneratedBy ECO_0000218 NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_provenance.
- NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_assertion wasDerivedFrom uniprot-20150221 NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_provenance.
- NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_assertion SIO_000772 22729224 NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_provenance.
- NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_assertion evidence source_evidence_curated NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_provenance.
- NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_assertion description "[De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP45.RARtrFspmXaAyFnoCLZxOvLF9wIDuiAFZSTXruF7y2IPs130_provenance.