Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_assertion type Assertion NP173973.RAfoM-73bRU0KBEXqWR3uX_052NtcmHFLGlBX3uL6doSg130_head.
- 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.