Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_assertion> ?p ?o ?g. }
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- NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_assertion type Assertion NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_head.
- NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_assertion wasGeneratedBy ECO_0000203 NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_provenance.
- NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_assertion wasDerivedFrom befree-20150227 NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_provenance.
- NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_assertion SIO_000772 22212387 NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_provenance.
- NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_assertion evidence source_evidence_literature NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_provenance.
- NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_assertion description "[Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterized by 2,8-dihydroxyadenine (2,8-DHA) crystalluria that can cause nephrolithiasis and chronic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP247490.RAkm28FDzyt0PgHSICsAcGm73rywR1R7UQaysaZNLIQYc130_provenance.