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Assessing Pathogenicity of Mismatch Repair Variants of Uncertain Significance by Molecular Tumor Analysis

Anne-Sophie van der Werf't Lam,Noah C. Helderman,Arnoud Boot,Diantha Terlouw,Hans Morreau, Hailian Mei,Rebecca E. E. Esveldt-van Lange,Inge M. M. Lakeman,Christi J. van Asperen,Emmelien Aten, Nandy Hofland, Pia A. M. de Koning Gans,Emily Rayner,Carli Tops,Niels de Wind,Tom van Wezel,Maartje Nielsen

EXPERIMENTAL AND MOLECULAR PATHOLOGY（2024）

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关键词
Whole exome sequencing,Variant of unknown significance,Reclassification pathogenicity,Mismatch repair deficiency,Mutational signature,Lynch syndrome
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