Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_assertion> ?p ?o ?g. }
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- NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_assertion type Assertion NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_head.
- NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_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." NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_provenance.
- NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_assertion evidence source_evidence_literature NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_provenance.
- NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_assertion SIO_000772 20164212 NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_provenance.
- NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_assertion wasDerivedFrom gad-20150221 NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_provenance.
- NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_assertion wasGeneratedBy ECO_0000203 NP135749.RAGmuD9kjAMBt4QbdaOoARZ3UjIEEjUbyaMn9Y5_f4lxM130_provenance.