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MLH1
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Lynch syndrome
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DNA mismatch repair
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Bernstein, I.
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Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment
No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2
Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants
Gynecological surveillance and surgery outcomes in Dutch Lynch syndrome carriers
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
Development of in vitro and in vivo functional assays to enable diagnosis of Variants of Uncertain Significance in the common cancer predisposition Lynch syndrome
Functional characterization of MLH1 missense variants identified in lynch syndrome patients