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- source_evidence_literature type ECO_0000212 NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance.
- NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_assertion description "[Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance.
- NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_assertion evidence source_evidence_literature NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance.
- NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_assertion SIO_000772 16684602 NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance.
- NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_assertion wasDerivedFrom befree-20140225 NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance.
- NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_assertion wasGeneratedBy ECO_0000203 NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance.
- befree-20140225 importedOn "2014-02-25" NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance.