Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_assertion> ?p ?o ?g. }
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- NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_assertion type Assertion NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_head.
- NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_assertion description "[Cycle sequencing of amplified NDUFS8 cDNA of 20 patients with isolated enzymatic complex I deficiency revealed two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_provenance.
- NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_assertion evidence source_evidence_literature NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_provenance.
- NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_assertion SIO_000772 9837812 NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_provenance.
- NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_assertion wasDerivedFrom befree-20150227 NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_provenance.
- NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_assertion wasGeneratedBy ECO_0000203 NP586729.RAxzNmbGvr-Sob0N7HYu5xJKIJN0EdX6r0PjwDgmeZaaI130_provenance.