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- source_evidence_literature type ECO_0000212 NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_provenance.
- NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_assertion description "[In our study of three adult patients with homozygous mutations in the PCBD1 gene, two patients were diagnosed with hypomagnesemia and renal Mg(2+) loss, and two patients developed diabetes with characteristics of maturity onset diabetes of the young (MODY), regardless of serum Mg(2+) levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_provenance.
- NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_assertion evidence source_evidence_literature NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_provenance.
- NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_assertion SIO_000772 24204001 NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_provenance.
- NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_assertion wasDerivedFrom befree-2016 NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_provenance.
- NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_assertion wasGeneratedBy ECO_0000203 NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1126011.RA0g79HpbhX1ZB_BYRzKcNjOBi54hY6DPO3lV8xbLBJTk130_provenance.