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Open-source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data

Elisabet Munte,Lidia Feliubadalo,Jesus Del Valle,Sara Gonzalez, Mireia Ramos-Muntada,Judith Balmana,Teresa Ramon y Caja,Noemi Tuset,Gemma Llort,Juan Cadinanos,Joan Brunet,Gabriel Capella,Conxi Lazaro,Marta Pineda

Journal of Molecular Diagnostics（2024）

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