Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_assertion> ?p ?o ?g. }
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- NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_assertion type Assertion NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_head.
- NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_assertion description "[Muscle histology, POLG1 gene sequence, neuropathology and mitochondrial DNA analyses in a mother and a son showed typical findings for a mitochondrial disorder, and both were shown to be homozygous for a recessive POLG1 mutation, underlying mitochondrial recessive ataxia syndrome, MIRAS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_provenance.
- NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_assertion evidence source_evidence_literature NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_provenance.
- NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_assertion SIO_000772 22166854 NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_provenance.
- NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_assertion wasDerivedFrom befree-20140225 NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_provenance.
- NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_assertion wasGeneratedBy ECO_0000203 NP354305.RA4xH6ao-LRsIDVsk_9Ff5foBX5mJ5n4uzoIMPORT3eZQ130_provenance.