Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_assertion> ?p ?o ?g. }
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- NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_assertion type Assertion NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_head.
- NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_assertion description "[In two families affected by POF accompanied by hearing loss (together, these symptoms compose Perrault syndrome), exome sequencing revealed mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase: homozygous c.1565C>A (p.Thr522Asn) in a consanguineous Palestinian family and compound heterozygous c.1077delT and c.1886C>T (p.Thr629Met) in a nonconsanguineous Slovenian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_provenance.
- NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_assertion evidence source_evidence_literature NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_provenance.
- NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_assertion SIO_000772 23541342 NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_provenance.
- NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_assertion wasDerivedFrom befree-20140225 NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_provenance.
- NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_assertion wasGeneratedBy ECO_0000203 NP256959.RAEhvUnusYKn46o84H398hih5cLvYJpCGO58fEJ7yFZ18130_provenance.