Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_assertion type Assertion NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_head.
- NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_assertion description "[General conclusions are that: (i) disorders of glycogen metabolism are more likely to cause 'fetal disease' than defects of the respiratory chain; (ii) mitochondrial encephalomyopathies, especially those due to defects of the nuclear genome, are frequent causes of neonatal or infantile diseases, typically Leigh syndrome, but usually do not cause fetal distress; (iii) notable exceptions include mutations in the complex III assembly gene BCS1L resulting in the GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death), and defects of mitochondrial protein synthesis, which are the 'new frontier' in mitochondrial translational research.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_provenance.
- NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_assertion evidence source_evidence_literature NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_provenance.
- NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_assertion SIO_000772 21620786 NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_provenance.
- NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_assertion wasDerivedFrom befree-20140225 NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_provenance.
- NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_assertion wasGeneratedBy ECO_0000203 NP918238.RACzhtVaPBhFTAkXOqYTi5UtE1_jS8QAv4hTMN6TUdyY4130_provenance.