MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France
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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
Magnetic resonance sounding for the estimate of hydrogeologic characteristics of chalk aquifers (North of France)
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DOI: 10.1007/s12517-020-06001-6
Abstract: The hydrogeological characteristics are required for investigating the modelling processes. The transmissivity and hydraulic conductivity values which are obtained from the inverse methods and pumping tests are not representative in the northern part of France… read more here.
Keywords: north france; magnetic resonance; resonance sounding; transmissivity ... See more keywords