Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_assertion> ?p ?o ?g. }
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- NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_assertion type Assertion NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_head.
- NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_assertion description "[Finally OPA1 missense mutations are involved in phenotypes presenting optic atrophy as a major feature.To define the relative contribution of POLG1, POLG2, ANT1 and PEO1 genes to the mtDNA multiple deletion syndromes, we analysed them in a cohort of 67 probands showing accumulation of multiple mtDNA deletions in muscle.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_provenance.
- NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_assertion evidence source_evidence_literature NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_provenance.
- NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_assertion SIO_000772 18575922 NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_provenance.
- NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_assertion wasDerivedFrom befree-20140225 NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_provenance.
- NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_assertion wasGeneratedBy ECO_0000203 NP547930.RAR5IMCHpPYG3S5oeiPRYQqMAJorOjN5zakSja81n4xD4130_provenance.