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Compound Heterozygous Complete Loss-of-Function SPINK1 Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency

2025-06-27

Abstract excerpt

While complete loss-of-function (LoF) SPINK1 variants in the simple heterozygous state predispose to or cause chronic pancreatitis, biallelic complete LoF variants result in severe infantile isolated exocrine pancreatic insufficiency (SIIEPI). To date, only two individuals with a null SPINK1 genotype have been reported—one homozygous for a full-gene deletion and the other for an Alu insertion in the 3′ untranslate...

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Literature Corpus work: cd487819-ed05-52d4-a770-e1e22fd0e9fa
DOI: 10.20944/preprints202506.2236.v1

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Compound Heterozygous Complete Loss-of-Function <em>SPINK1</em> Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency

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