Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_assertion> ?p ?o ?g. }
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- NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_assertion type Assertion NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_head.
- NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_assertion description "[In humans, a mutation in the Glis2 gene has been linked to the development of nephronophthisis (NPHP), a recessive cystic kidney disease, while mutations in Glis3 lead to an extended multisystem phenotype that includes the development of neonatal diabetes, polycystic kidneys, congenital hypothyroidism, and facial dysmorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_provenance.
- NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_assertion evidence source_evidence_literature NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_provenance.
- NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_assertion SIO_000772 22391303 NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_provenance.
- NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_assertion wasDerivedFrom befree-20150227 NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_provenance.
- NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_assertion wasGeneratedBy ECO_0000203 NP957298.RA9OuZs1DKKNtft_asRk8LlF-sc33GqmkqvN9ko43msp4130_provenance.