Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_assertion> ?p ?o ?g. }
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- NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_assertion type Assertion NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_head.
- NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_assertion description "[Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_provenance.
- NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_assertion evidence source_evidence_curated NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_provenance.
- NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_assertion SIO_000772 16835905 NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_provenance.
- NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_assertion wasDerivedFrom uniprot-2016 NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_provenance.
- NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_assertion wasGeneratedBy ECO_0000218 NP4618.RAVzkaRP6y80YpWemtfGTU5nm4QDumVVZCDN5daEyEXwM130_provenance.