Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_assertion> ?p ?o ?g. }
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- NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_assertion type Assertion NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_head.
- NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_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." NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_provenance.
- NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_assertion evidence source_evidence_literature NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_provenance.
- NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_assertion SIO_000772 21139041 NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_provenance.
- NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_assertion wasDerivedFrom befree-20150227 NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_provenance.
- NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_assertion wasGeneratedBy ECO_0000203 NP978035.RAkCesZPE5GTtSUNJY9w3Y9wIhzyPcSn7II2E97BXN2Vw130_provenance.