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List of works by Maribel González-Acosta

Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.

scientific article published on 16 September 2014

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

scientific article

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

scientific article published on 2 June 2017

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

scientific article published on 07 September 2019

Validation of an in Vitro Mismatch Repair Assay Used in the Functional Characterization of Mismatch Repair Variants

scientific article published on 25 December 2019

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