Characterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment
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Objective: To describe the clinical characteristics and perform a multi-step bioinformatics evaluation of the pathogenicity of NM_000251.3(MSH2):c.1894_1898del (p.Ile633Lysfs*9), an MSH2 germline variant detected in a family with... ...
