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- source_evidence_literature type ECO_0000212 NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_provenance.
- NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_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." NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_provenance.
- NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_assertion evidence source_evidence_literature NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_provenance.
- NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_assertion SIO_000772 18575922 NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_provenance.
- NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_assertion wasDerivedFrom befree-2016 NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_provenance.
- NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_assertion wasGeneratedBy ECO_0000203 NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_provenance.
- befree-2016 importedOn "2016-02-19" NP678471.RAgtHgu7i6yJFH-zb5Zjwy3O_TWuyKJkKH2BV_zy_jlsg130_provenance.