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variants of uncertain significance
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The long Filamin-A isoform is required for intestinal development and motility
Universal immunohistochemistry for Lynch syndrome: s systematic review and meta-analysis of 58,580 colorectal carcinomas
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers
Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development
Correspondence: SEMA4A variation and risk of colorectal cancer
Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance
Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer