Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_assertion> ?p ?o ?g. }
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- NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_assertion type Assertion NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_head.
- NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_assertion description "[In this large series, HNF4A mutations are the third most common cause of diazoxide responsive HH. We recommend that HNF4A sequencing is considered in all patients with diazoxide responsive HH diagnosed in the first week of life irrespective of a family hi]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_provenance.
- NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_assertion evidence source_evidence_literature NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_provenance.
- NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_assertion SIO_000772 20164212 NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_provenance.
- NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_assertion wasDerivedFrom gad-20150221 NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_provenance.
- NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_assertion wasGeneratedBy ECO_0000203 NP70206.RALocHr3iFoCuqi0YuK0VWLiihFs6R5M7BS6308ABV9WU130_provenance.