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Representative mismatch repair gene mutations. Top panels: MLPA electropherogram (left) and analysis of MLPA data with the Software Coffalyser v.140721.1958 (MRC-Holland, Amsterdam, Holland). (NET (right) showing the MSH2 c.(?_-68)_1276+?del variant, corresponding to a large deletion encompassing exons 1–7. Bottom panel: Sanger sequencing showing the MLH1 c.688G>T variant producing the truncated p.(G1u230*) protein. The mutated codon (GAA > TAA) is circled in red.
