A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young Fren... by Emmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, David N Cooper, Claude Férec

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Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large by Na Pu, Emmanuelle Masson, David N. Cooper, Emmanuelle Génin, Claude Férec, Jian-Min Chen

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Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses by Anthony F. Herzig, Emmanuelle Génin, David N. Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen

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Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review by Jian-Min Chen, Anthony F. Herzig, Emmanuelle Génin, Emmanuelle Masson, David N. Cooper, Claude Férec

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Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays by Jin-Huan Lin, Jin-Huan Lin, Hao Wu, Hao Wu, Wen-Bin Zou, Wen-Bin Zou, Emmanuelle Masson, Emmanuelle Masson, Yann Fichou, Yann Fichou, Gerald Le Gac, Gerald Le Gac, Gerald Le Gac, David N. Cooper, Claude Férec, Claude Férec, Zhuan Liao, Zhuan Liao, Jian-Min Chen

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Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date by Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li

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Expanding ACMG variant classification guidelines into a general framework by Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen

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Natural history of SPINK1 germline mutation related-pancreatitis by Nelly Muller, Ioannis Sarantitis, Marie Rouanet, Louis de Mestier, Christopher Halloran, William Greenhalf, Claude Férec, Emmanuelle Masson, Philippe Ruszniewski, Philippe Lévy, John Neoptolemos, Louis Buscail, Vinciane Rebours

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Toward a clinical diagnostic pipeline for SPINK1 intronic variants by Xin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, Shun-Jiang Deng, David N. Cooper, Zhuan Liao, Claude Férec, Zhao-Shen Li, Jian-Min Chen

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Mutational analysis of ATP8B1 in patients with chronic pancreatitis. by Wendy L van der Woerd, Désirée Y van Haaften-Visser, Stan F J van de Graaf, Claude Férec, Emmanuelle Masson, Janneke M Stapelbroek, Peter Bugert, Heiko Witt, Roderick H J Houwen

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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants by Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao, Jian-Min Chen

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Common variants in glyoxalase I do not increase chronic pancreatitis risk. by Tom Kaune, Marcus Hollenbach, Bettina Keil, Jian-Min Chen, Emmanuelle Masson, Carla Becker, Marko Damm, Claudia Ruffert, Robert Grützmann, Albrecht Hoffmeister, Rene H M Te Morsche, Giulia Martina Cavestro, Raffaella Alessia Zuppardo, Adrian Saftoiu, Ewa Malecka-Panas, Stanislaw Głuszek, Peter Bugert, Markus M Lerch, Frank Ulrich Weiss, Wen-Bin Zou, Zhuan Liao, Peter Hegyi, Joost Ph Drenth, Jan Riedel, Claude Férec, Markus Scholz, Holger Kirsten, Andrea Tóth, Maren Ewers, Heiko Witt, Heidi Griesmann, Patrick Michl, Jonas Rosendahl

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