Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_assertion> ?p ?o ?g. }
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- NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_assertion type Assertion NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_head.
- NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_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." NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_provenance.
- NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_assertion evidence source_evidence_literature NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_provenance.
- NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_assertion SIO_000772 20164212 NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_provenance.
- NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_assertion wasDerivedFrom gad-20150221 NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_provenance.
- NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_assertion wasGeneratedBy ECO_0000203 NP164742.RAR1y5OQpWur6HBZ6Tk6MCS-Ul0T9Hg0TVQznMJzfKX_Q130_provenance.