From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene.

Ahmed Bouras,Clementine Legrand, Jihen Kourda,Eric Ruano,Chloé Grand-Masson,Cedrick Lefol,Qing Wang

Molecular genetics & genomic medicine（2023）

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摘要

Our finding suggested that although NGS technologies have increased variant detection yield, combined approaches were still needed for complex variant characterization and pathogenicity assessment.

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关键词

dMMR, large genomic rearrangement, Lynch syndrome, MLH1, NGS, RNA analysis

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