Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_assertion> ?p ?o ?g. }
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- NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_assertion type Assertion NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_head.
- NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_assertion wasGeneratedBy ECO_0000203 NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_provenance.
- NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_assertion wasDerivedFrom befree-2016 NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_provenance.
- NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_assertion SIO_000772 9694901 NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_provenance.
- NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_assertion evidence source_evidence_literature NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_provenance.
- NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_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." NP1401267.RA757CCiwOy3vW0tqmGw5UvAUrCsVefyXf-rMb93cmbC0130_provenance.