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Additional file 2 of A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5′-nucleotidase deficiency

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Figshare2022-11-28 更新2026-04-08 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_2_of_A_rare_mutation_p_F149del_of_the_NT5C3A_gene_is_associated_with_pyrimidine_5_-nucleotidase_deficiency/21628746/1
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资源简介:
Additional file 2: Detailed data on the analyzed variant NM_001166118.3: c.444_446delGTT detected WES and analyzed using Ingenuity Variant Analysis plugin (QIAGEN, CA, USA).
提供机构:
Machnicka, Beata; Bogusławska, Dżamila M.; Skulski, Michał; Heger, Elżbieta; Bartoszewski, Rafał; Sikorski, Aleksander F.; Kuliczkowski, Kazimierz
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2022-11-28
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