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- source_evidence_literature type ECO_0000212 NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_provenance.
- NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_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." NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_provenance.
- NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_assertion evidence source_evidence_literature NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_provenance.
- NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_assertion SIO_000772 20410234 NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_provenance.
- NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_assertion wasDerivedFrom befree-20150227 NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_provenance.
- NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_assertion wasGeneratedBy ECO_0000203 NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP730931.RAGBTqN1rn5O5godaJ-3RWPGp63V5V1VOYth-wcXmyXZk130_provenance.