PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene von Bouras, Ahmed, Lefol, Cedrick, Ruano, Eric, Grand‐Masson, Chloé, Wang, Qing

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Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for "Lynch-like syndrome" including young patients von Lefol, Cedrick, Sohier, Emilie, Baudet, Christian, Naïbo, Pierre, Ruano, Eric, Grand-Masson, Chloé, Viari, Alain, Wang, Qing

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From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene von Bouras, Ahmed, Legrand, Clementine, Kourda, Jihen, Ruano, Eric, Grand-Masson, Chloé, Lefol, Cedrick, Wang, Qing

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Somatic MMR Gene Mutations as a Cause for MSI-H Sebaceous Neoplasms in Muir-Torre Syndrome-Like Patients von Joly, Marie-Odile, Attignon, Valéry, Saurin, Jean-Christophe, Desseigne, Françoise, Leroux, Dominique, Martin-Denavit, Tanguy, Giraud, Sophie, Bonnet-Dupeyron, Marie-Noëlle, Faivre, Laurence, Auclair, Jessie, Grand-Masson, Chloé, Audoynaud, Carole, Wang, Qing

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Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria von Bouras, Ahmed, Lefol, Cedrick, Ruano, Eric, Grand-Masson, Chloé, Auclair-Perrossier, Jessie, Wang, Qing

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Aberrant transcription caused by an intronic non-canonical CDH1 variant von Bouras, Ahmed, Grand-Masson, Chloé, Lefol, Cedrick, Ruano, Eric, Prieur, Fabienne, Wang, Qing

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A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome von Bouras, Ahmed, Naibo, Pierre, Legrand, Clémentine, Marc’hadour, François Le, Ruano, Eric, Grand-Masson, Chloé, Lefol, Cedrick, Wang, Qing

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A substrate sensor chip to assay the enzymatic activity of Botulinum neurotoxin A von Lévêque, Christian, Ferracci, Géraldine, Maulet, Yves, Grand-Masson, Chloé, Blanchard, Marie-Pierre, Seagar, Michael, El Far, Oussama

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chip-based assay for botulinum neurotoxin A activity in pharmaceutical preparations von Lévêque, Christian, Ferracci, Géraldine, Maulet, Yves, Grand-Masson, Chloé, Seagar, Michael, El Far, Oussama

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