Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_assertion> ?p ?o ?g. }
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- NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_assertion type Assertion NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_head.
- NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_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." NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_provenance.
- NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_assertion evidence source_evidence_literature NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_provenance.
- NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_assertion SIO_000772 23759358 NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_provenance.
- NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_assertion wasDerivedFrom befree-20140225 NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_provenance.
- NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_assertion wasGeneratedBy ECO_0000203 NP500716.RAbye3UF8RqfJjEQrcGvn6H-GmundkfSda_tU8X6MQJB8130_provenance.