Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_assertion> ?p ?o ?g. }
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- NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_assertion type Assertion NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_head.
- NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_assertion description "[Homozygosity mapping of 5 patients from a consanguineous family with infantile mitochondrial encephalomyopathy resulted in the identification of a missense mutation in a conserved residue of the C6ORF66.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_provenance.
- NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_assertion evidence source_evidence_literature NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_provenance.
- NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_assertion SIO_000772 18179882 NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_provenance.
- NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_assertion wasDerivedFrom lhgdn-20090331 NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_provenance.
- NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_assertion wasGeneratedBy ECO_0000203 NP233043.RA28Tqj5l3DQgSZzRlshXGxYgiG337eExrIEm0CjxLjlA130_provenance.