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- W4327932023 abstract "Introduction An internationally shared framework for variant classification in genetic disorders has been established by the American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG–AMP). The EAHAD F7 variant database has been prepared to list the pathogenicity of variants based on the ACMG classification. However, there is a lack of data on the utility of ACMG classification for the interpretation of molecular genetic test results in patients with FVII deficiency (1)." @default.
- W4327932023 created "2023-03-21" @default.
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- W4327932023 date "2023-02-01" @default.
- W4327932023 modified "2023-10-10" @default.
- W4327932023 title "Utility of ACMG classification to support interpretation of molecular genetic test results in patients with FVII deficiency" @default.
- W4327932023 cites W2051978340 @default.
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- W4327932023 doi "https://doi.org/10.1055/s-0042-1760573" @default.
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