Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_assertion> ?p ?o ?g. }
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- NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_assertion type Assertion NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_head.
- NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_assertion description "[Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_provenance.
- NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_assertion evidence source_evidence_literature NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_provenance.
- NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_assertion SIO_000772 11916616 NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_provenance.
- NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_assertion wasDerivedFrom lhgdn-20090331 NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_provenance.
- NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_assertion wasGeneratedBy ECO_0000203 NP193758.RAlYgIOp_GMnHnPeNFE1HIkZUzAYO6Suoz7Rle-UyBFKo130_provenance.