Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_assertion> ?p ?o ?g. }
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- NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_assertion type Assertion NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_head.
- NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_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." NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_provenance.
- NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_assertion evidence source_evidence_literature NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_provenance.
- NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_assertion SIO_000772 22022284 NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_provenance.
- NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_assertion wasDerivedFrom befree-20150227 NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_provenance.
- NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_assertion wasGeneratedBy ECO_0000203 NP1014422.RA30L9cUC6Dszfa46jg3YNdPfDoMlL6NtZESucZ_Q6QUc130_provenance.