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Transfusion|August 7, 2020
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopeniaPaul Guéguen, Arnaud Dupuis, Jean-Yves Py, et al.
Human Mutation|September 26, 2017
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 geneThéa Venet, Emmanuelle Masson, Cécile Talbotec, et al.
Lipids in Health and Disease|August 11, 2023
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to dateGuofu Zhang, Yuepeng Hu, Qi Yang, et al.
Frontiers in Genetics|January 8, 2021
EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal DiagnosisYe Wang, Liangying Zhong, Yan Xu, et al.
Human Mutation|February 10, 2021
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitisEmmanuelle Masson, Vinciane Rebours, Louis Buscail, et al.
Frontiers in Genetics|August 23, 2021
Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing AssaysJin-Huan Lin, Hao Wu, Wen-Bin Zou, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|June 3, 2023
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitisEmmanuelle Masson, Stéphanie Berthet, Gerald Le Gac, et al.
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
Human Genomics|August 16, 2022
Expanding ACMG variant classification guidelines into a general frameworkEmmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, et al.
Cellular and Molecular Gastroenterology and Hepatology|April 10, 2022
The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in MiceXiao-Tong Mao, Wen-Bin Zou, Yu Cao, et al.
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