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- NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_assertion type Assertion NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_head.
- NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_assertion description "[Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_provenance.
- NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_assertion evidence source_evidence_curated NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_provenance.
- NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_assertion SIO_000772 22683713 NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_provenance.
- NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_assertion wasDerivedFrom ctd_human-20130708 NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_provenance.
- NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_assertion wasGeneratedBy ECO_0000218 NP29256.RA_6jB-3rjCxnNbqaHfZH49GoL0zqcjujYNqwA0ghXBrY130_provenance.