Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_assertion> ?p ?o ?g. }
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- NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_assertion type Assertion NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_head.
- NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_assertion description "[Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_provenance.
- NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_assertion evidence source_evidence_literature NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_provenance.
- NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_assertion SIO_000772 22022284 NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_provenance.
- NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_assertion wasDerivedFrom befree-2016 NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_provenance.
- NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_assertion wasGeneratedBy ECO_0000203 NP933163.RAiFWLbyeomMkbKaN9dTGWFS3cgHv6pDn4HaJXLJ2FWJE130_provenance.