Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_assertion> ?p ?o ?g. }
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- NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_assertion type Assertion NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_head.
- NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_assertion description "[The shorter thyroglobulin resulting from the novel g.IVS35+1delG was retained within the endoplasmic reticulum of thyrocytes, and together with p.R227X caused severe hypothyroidism with goiter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_provenance.
- NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_assertion evidence source_evidence_literature NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_provenance.
- NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_assertion SIO_000772 20410234 NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_provenance.
- NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_assertion wasDerivedFrom befree-20150227 NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_provenance.
- NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_assertion wasGeneratedBy ECO_0000203 NP730777.RAymqSbzPL5PKbZNgd86XTXdGkPIGe2MjL-DEN72N2yMA130_provenance.