Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_assertion> ?p ?o ?g. }
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- NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_assertion type Assertion NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_head.
- NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_assertion wasGeneratedBy ECO_0000203 NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_provenance.
- NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_assertion wasDerivedFrom befree-2016 NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_provenance.
- NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_assertion SIO_000772 13129599 NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_provenance.
- NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_assertion evidence source_evidence_literature NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_provenance.
- NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_assertion description "[Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP409437.RADDkmAof6Cv6XXy7kmT66asjxZj3ZLE9hn4gp1MhiTSs130_provenance.