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- source_evidence_literature type ECO_0000212 NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_provenance.
- NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_assertion wasGeneratedBy ECO_0000203 NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_provenance.
- NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_assertion wasDerivedFrom befree-2016 NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_provenance.
- NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_assertion SIO_000772 9694901 NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_provenance.
- NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_assertion evidence source_evidence_literature NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_provenance.
- NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_assertion description "[The GM2 gangliosidoses are caused by mutations in the genes encoding the alpha- (Tay-Sachs) or beta- (Sandhoff) subunits of heterodimeric beta-hexosaminidase A (Hex A), or the GM2 activator protein (AB variant), a substrate-specific co-factor for Hex A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1401266.RARZzymTaLbndDV1r1Lgb4fStPpsg_KvDK9Xg-jeRJNyc130_provenance.