Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_assertion type Assertion NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_head.
- NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_assertion description "[We report on novel mutations of the IDUA gene in one patient with the Scheie syndrome and in three patients with the Hurler/Scheie syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_provenance.
- NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_assertion evidence source_evidence_literature NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_provenance.
- NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_assertion SIO_000772 7550232 NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_provenance.
- NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_assertion wasDerivedFrom befree-20150227 NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_provenance.
- NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_assertion wasGeneratedBy ECO_0000203 NP475614.RA3cU0--h8chuLNhSP836vYKIZDKz4ZSVyW_efFATbbWY130_provenance.