Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_assertion> ?p ?o ?g. }
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- NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_assertion type Assertion NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_head.
- NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_assertion description "[Exome sequencing of the two siblings with complex V deficiency revealed a heterozygous mutation in the ATP5A1 gene, coding for complex V subunit ?.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_provenance.
- NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_assertion evidence source_evidence_literature NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_provenance.
- NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_assertion SIO_000772 23599390 NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_provenance.
- NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_assertion wasDerivedFrom befree-20140225 NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_provenance.
- NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_assertion wasGeneratedBy ECO_0000203 NP832052.RAktFLk8BukuDzWUrZ69u227VUWwP9LMgNebIP35XpNY8130_provenance.