Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion> ?p ?o ?g. }
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- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion type Assertion NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_head.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_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." NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion evidence source_evidence_curated NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion SIO_000772 22022284 NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion wasDerivedFrom uniprot-2016 NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.
- NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_assertion wasGeneratedBy ECO_0000218 NP6828.RAZFMZTtLr8YiunUBYKpmta4DBkvzFM8zBmaYuhgMBTs0130_provenance.