Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_assertion> ?p ?o ?g. }
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- NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_assertion type Assertion NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_head.
- NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_provenance.
- NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_assertion evidence source_evidence_literature NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_provenance.
- NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_assertion SIO_000772 11409433 NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_provenance.
- NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_assertion wasDerivedFrom befree-2016 NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_provenance.
- NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_assertion wasGeneratedBy ECO_0000203 NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_provenance.