Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_assertion> ?p ?o ?g. }
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- NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_assertion type Assertion NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_head.
- NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_assertion wasGeneratedBy ECO_0000203 NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_provenance.
- NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_assertion wasDerivedFrom befree-2016 NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_provenance.
- NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_assertion SIO_000772 16938882 NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_provenance.
- NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_assertion evidence source_evidence_literature NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_provenance.
- NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_assertion description "[Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP566488.RAbBfIcjpZ-aPznZ_OezUZtzhIcGP-dUJU7xuIwLdEHBI130_provenance.