Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_assertion> ?p ?o ?g. }
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- NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_assertion type Assertion NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_head.
- NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_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." NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_provenance.
- NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_assertion evidence source_evidence_literature NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_provenance.
- NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_assertion SIO_000772 22022284 NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_provenance.
- NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_assertion wasDerivedFrom befree-20140225 NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_provenance.
- NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_assertion wasGeneratedBy ECO_0000203 NP756833.RAEwT_1xbArqBYK7zKKT70qKDmnpKtdZlqKXoeoG_fJnM130_provenance.