Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_assertion type Assertion NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_head.
- NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_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." NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_provenance.
- NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_assertion evidence source_evidence_literature NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_provenance.
- NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_assertion SIO_000772 22391303 NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_provenance.
- NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_assertion wasDerivedFrom befree-20150227 NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_provenance.
- NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_assertion wasGeneratedBy ECO_0000203 NP978059.RAJrmdl_po4p_qAEdyCc7RQ4g8nhBxVf2BLxKmnNFIFIU130_provenance.