Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_assertion> ?p ?o ?g. }
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- NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_assertion type Assertion NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_head.
- NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_assertion description "[Our data provide the first molecular genetic analysis of 5-oxoprolinuria and demonstrate that GSS deficiency with oxoprolinuria and GSS deficiency without 5-oxoprolinuria are caused by mutations in the same gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_provenance.
- NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_assertion evidence source_evidence_literature NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_provenance.
- NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_assertion SIO_000772 8896573 NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_provenance.
- NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_assertion wasDerivedFrom befree-20140225 NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_provenance.
- NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_assertion wasGeneratedBy ECO_0000203 NP476903.RAB_GPeF5ZyzfO7rZaXb9Nomrru6fbh4EZP8xZ-QXDLgU130_provenance.