1 results found

William Foulkes, Kenzie Melvill, Leora Witkowski, Céline Domecq, Nancy Hamel, Justin Mayers, Sofia Maia, Manuel Teixeira, Inês Francisco, Cristina Albuquerque, Olivia Tan, Kevin McDonnell, Alexandra Capasso, George Chong, Victoria Marcus, Carla Pinto

In certain populations, founder pathogenic variants are a common cause of Lynch syndrome. Here, we report the identification of a novel founder variant, NM_000179.3 (MSH6):c.2061T > G (p.Cys687Trp). O...

European Journal of Human Genetics 2026-04-21 rs-9172566
Founder variant Lynch syndrome variant of uncertain significance immunohistochemistry haplotype endometrial cancer
Back to Top
Home
Browse
Submit
About
0.082184s