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Journal: Genes, 2025
Volume: 16
Number: 998

Article: Compound Heterozygous Complete Loss-of-Function SPINK1 Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency
Authors: by Emmanuelle Masson, Marc Wangermez, David Tougeron, Vinciane Rebours, Claude Férec and Jian-Min Chen
Link: https://www.mdpi.com/2073-4425/16/9/998

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