Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_assertion> ?p ?o ?g. }
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- NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_assertion type Assertion NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_head.
- NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_assertion description "[Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_provenance.
- NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_assertion evidence source_evidence_literature NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_provenance.
- NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_assertion SIO_000772 25633667 NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_provenance.
- NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_assertion wasDerivedFrom befree-2016 NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_provenance.
- NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_assertion wasGeneratedBy ECO_0000203 NP1259387.RAYimJCb-gvGB0yhP-g6NnAoh9n4c0DfLyomrJd739jUc130_provenance.