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A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

Fatima Marin,Julia Canet-Hermida,Vanessa Bianchi,Jiil Chung,Katharina Wimmer,William Foulkes,Vanesa Perez-Alonso,Nerea Dominguez-Pinilla,Constantino Sabado,Felisa Vazquez-Gomez,Antonio Molines,Victoria Fioravantti,Estela Carrasco,Lucie Stengs,Melissa Edwards,Logine Negm,Anirban Das,Melyssa Aronson, Angela Pastor,Daniel Rueda,Luis Ignacio Gonzalez-Granado,Uri Tabori,Gabriel Capella,Marta Pineda

Clinical Chemistry（2024）

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