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Article

Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large.

Genes - 23 Oct 2021

Pu Na, Masson Emmanuelle, Cooper David N, Génin Emmanuelle, Férec Claude, Chen Jian-Min

Abstract excerpt

A diverse range of loss-of-function variants in the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) has been identified in patients with chronic pancreatitis (CP). The haplotype harboring the SPINK1 c.101A>G (p.Asn34Ser or N34S) variant (rs17107315:T>C) is one of the most important heritable risk factors for CP as a consequence of its relatively high prevalence worldwide (population allele frequency...

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Binding Sites
Gene Frequency
Linkage Disequilibrium
Loss of Function Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Pancreatitis, Chronic

Promoter Regions, Genetic

Trypsin Inhibitor, Kazal Pancreatic

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Identifiers

PMID: 34828289
DOI: 10.3390/genes12111683
PMCID: PMC8619230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large.PMID 34828289Read ↗

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