Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_assertion> ?p ?o ?g. }
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- NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_assertion type Assertion NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_head.
- NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_assertion description "[We also report the first case of a recessive GLIS3 mutation causing neonatal diabetes and congenital hypothyroidism in a child from a non-consanguineous pedigree, highlighting the importance of molecular genetic testing in any patient with this phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_provenance.
- NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_assertion evidence source_evidence_literature NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_provenance.
- NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_assertion SIO_000772 21139041 NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_provenance.
- NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_assertion wasDerivedFrom befree-20140225 NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_provenance.
- NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_assertion wasGeneratedBy ECO_0000203 NP349469.RATwvJTY338hW_2NM16FX5HOYVNkC2sEWJPny26HJpDjk130_provenance.