Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_assertion type Assertion NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_head.
- NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_assertion description "[Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_provenance.
- NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_assertion evidence source_evidence_literature NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_provenance.
- NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_assertion SIO_000772 23759358 NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_provenance.
- NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_assertion wasDerivedFrom befree-20140225 NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_provenance.
- NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_assertion wasGeneratedBy ECO_0000203 NP469108.RAkvLLVwoE5QIsqg6O_fTnxv3QzmEZcaGOebA0yi0RwZY130_provenance.