Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- NP266251.RA45it8-JhdP4pJsET5J9oy6V9FEjiDrvQFKuM_4TryfM130_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." NP266251.RA45it8-JhdP4pJsET5J9oy6V9FEjiDrvQFKuM_4TryfM130_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.
- 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." provenance.