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- source_evidence_literature type ECO_0000212 NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_provenance.
- NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_assertion description "[The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare. No apolipoprotein B (apoB) mutations responsible for familial ligand-defective apoB-100 (FDB)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_provenance.
- NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_assertion evidence source_evidence_literature NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_provenance.
- NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_assertion SIO_000772 12417285 NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_provenance.
- NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_assertion wasDerivedFrom gad-20150221 NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_provenance.
- NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_assertion wasGeneratedBy ECO_0000203 NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_provenance.
- gad-20150221 importedOn "2015-02-21" NP58854.RA7Zsp5kTIiHhRgxQfT2Q-UfI9PnOjW_hrbP_SBpN6sxM130_provenance.