From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene.
从意义不明的变异到可能致病：MLH1 基因中大片段基因组缺失的特征和致病性确定
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.2231
Bouras Ahmed, Legrand Clementine, Kourda Jihen, Ruano Eric, Grand-Masson Chloé, Lefol Cedrick, Wang Qing
