Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_assertion> ?p ?o ?g. }
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- NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_assertion type Assertion NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_head.
- NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_assertion description "[Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_provenance.
- NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_assertion evidence source_evidence_curated NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_provenance.
- NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_assertion SIO_000772 22683713 NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_provenance.
- NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_assertion wasDerivedFrom ctd_human-20130708 NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_provenance.
- NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_assertion wasGeneratedBy ECO_0000218 NP29258.RA56D2opYHzXUjcnpveKQ2YhdyzySd2H4tVLshpg-enhs130_provenance.