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A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Germline Biallelic PMS2 Mutation Carriers among Constitutional Mismatch Repair Deficiency Individuals

Fatima Marin,Julia Canet-Hermida,Vanessa Bianchi,Jiil Chung,Katharina Wimmer,William Foulkes,Vanesa Perez-Alonso,Nerea Dominguez-Pinilla, Felisa Vazquez,Estela Carrasco Lopez,Constantino Sabado,Luis Ignacio Gonzalez-Granado,Uri Tabori,Gabriel Capella,Marta Pineda

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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