MLH1 c.27G>A (p.Arg9=) is a synonymous likely/pathogenic variant underlying variably mosaic constitutional MLH1 methylation in Lynch syndrome
MLH1 c.27G>A (p.Arg9=) 是一个同义的可能致病性变异，是林奇综合征中 MLH1 基因甲基化呈不同程度嵌合状态的根本原因。
期刊:Familial Cancer
影响因子:2
doi:10.1007/s10689-025-00482-8
Alvarez, Rocio; Climent-Cantó, Paula; Shin, GiWon; Aguirre, Francesca Paola; Zhou, Lisa; Hazelett, Dennis J; Larson, Brent K; Vara, Covadonga; Capellá, Gabriel; Castellanos, Víctor Lorca; Rubio, Pilar Garre; Desseigne, Françoise; Ji, Hanlee; Cook, Jackie; Durkie, Miranda; Pineda, Marta; Leclerc, Julie; Hitchins, Megan P
