Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance.
- NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_assertion description "[In one Japanese autosomal dominant progressive external ophthalmoplegia family, we found a novel A-to-G heterozygous mutation at nucleotide 311 of the adenine nucleotide translocator 1 gene, which segregated with affected individuals and could not be detected in the genomic DNA sequence of 120 normal controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance.
- NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_assertion evidence source_evidence_literature NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance.
- NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_assertion SIO_000772 12112115 NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance.
- NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_assertion wasDerivedFrom befree-20140225 NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance.
- NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_assertion wasGeneratedBy ECO_0000203 NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_provenance.