Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic

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作者： Marcou, Cherisse A. ^[1] ; Pitel, Beth ^[2] ; Hagen, Clinton E. ; Boczek, Nicole J. ; Rowsey, Ross A. ; Baughn, Linda B. ; Hoppman, Nicole L. ; Thorland, Erik C. ; Kearney, Hutton M.

作者单位： Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA ^[1] Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA ^[2]

关键词 copy-number variant reporting criteria duplication triplosensitivity microarray

发布时间 2021-04-09

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Genetics in medicine

2020年22卷12期

2120-2124页

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Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic

Genetics in medicine

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Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic

Genetics in medicine

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Genetics in medicine

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