Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_assertion> ?p ?o ?g. }
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- NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_assertion type Assertion NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_head.
- NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_assertion description "[GNPTAB encodes the ? and ? subunits of GlcNAc-1-phosphotransferase, and mutations in this gene cause the lysosomal storage disorders mucolipidosis II and III ??.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_provenance.
- NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_assertion evidence source_evidence_literature NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_provenance.
- NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_assertion SIO_000772 25505245 NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_provenance.
- NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_assertion wasDerivedFrom befree-2016 NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_provenance.
- NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_assertion wasGeneratedBy ECO_0000203 NP1248135.RA8hUmKmcU2r55JA3MbXeYBdepno2L8y5aQJmgAhSnGYI130_provenance.