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pro vyhledávání: '"Marie‐Hélène Rebergue"'
Autor:
Marie‐Hélène Rebergue, Denis Boidin, Francis Vasseur, Sylvie Manouvrier, Marie-Pierre Buisine, Catherine Vermaut, Agnès Wacrenier, Stéphane Cattan, Julie Leclerc, Sophie Lejeune, Tonio Lovecchio
Publikováno v:
Genes, Chromosomes and Cancer. 59:111-118
Interpretation of missense variants remains a major challenge for genetic diagnosis, even in well-known genes such as the DNA-mismatch repair (MMR) genes involved in Lynch syndrome. We report the characterization of a variant in MSH2: c.1022T>C, whic