Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_assertion> ?p ?o ?g. }
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- NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_assertion type Assertion NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_head.
- NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_assertion description "[Mutations in human GLIS3 have been implicated in a syndrome characterized by neonatal diabetes and congenital hypothyroidism (NDH) and in some patients accompanied by polycystic kidney disease, glaucoma, and liver fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_provenance.
- NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_assertion evidence source_evidence_literature NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_provenance.
- NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_assertion SIO_000772 20865670 NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_provenance.
- NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_assertion wasDerivedFrom befree-20140225 NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_provenance.
- NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_assertion wasGeneratedBy ECO_0000203 NP564659.RA74NbB3ztZyC6Cy1b6mrQS59Z0fXcsGPsgOkXiqHZg1Y130_provenance.