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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, E, M,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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Key words
Whole exome sequencing,Variant of unknown significance,Reclassification pathogenicity,Mismatch repair deficiency,Mutational signature,Lynch syndrome
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