MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France
Sign Up to like & getrecommendations! Published in 2019 at "Genes"
DOI: 10.1002/gcc.22804
Abstract: 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:… read more here.
Keywords: founder; variation; msh2 1022t; north france ... See more keywords