Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_assertion> ?p ?o ?g. }
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- NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_assertion type Assertion NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_head.
- NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_assertion description "[Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_provenance.
- NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_assertion evidence source_evidence_curated NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_provenance.
- NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_assertion SIO_000772 16322276 NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_provenance.
- NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_assertion wasDerivedFrom ctd_human-2016 NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_provenance.
- NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_assertion wasGeneratedBy ECO_0000218 NP16650.RAZi4CK0p5aIvHSRfcp-pZhPB7zMHQt9_6OZjZdVW-O64130_provenance.