Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion> ?p ?o ?g. }
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- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion type Assertion NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_head.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_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." NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion evidence source_evidence_literature NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion SIO_000772 22022284 NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion wasDerivedFrom befree-20150227 NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.
- NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_assertion wasGeneratedBy ECO_0000203 NP247121.RA4l9EehN9ILmO4yLkkVw5p-YW1UmTY3INA25RchZZFnM130_provenance.