CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)-论文-万方医学网

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

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作者： Deignan, Joshua L. ^[1] ; Astbury, Caroline ^[2] ; Cutting, Garry R. ^[3] ; del Gaudio, Daniela ^[4] ; Gregg, Anthony R. ^[5] ; Grody, Wayne W. ^[6] ; Monaghan, Kristin G. ^[7] ; Richards, Sue

作者单位： Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA ^[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA ^[2] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA ^[3] Cleveland Clin, Dept Pathol & Lab Med, Cleveland, OH 44106 USA ^[4] Baylor Univ, Med Ctr, Dept Obstet & Gynecol, Dallas, TX USA ^[5] GeneDx, Gaithersburg, MD USA ^[6] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Knight Diagnost Labs, Portland, OR 97201 USA ^[7]

关键词 genome variant fibrosis pancreatitis screening

发布时间 2022-09-10

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