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Article

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis.

Human mutation - 1 Nov 2016

Boulling Arnaud, Abrantes Amandine, Masson Emmanuelle, Cooper David N, Robaszkiewicz Michel, Chen Jian-Min, Férec Claude

Abstract excerpt

Recently, our resequencing of the promoter region of PRSS1 in French Caucasian individuals led to the identification of a functional variant (c.-204C > A) that is in perfect linkage disequilibrium with the "chronic pancreatitis (CP)-protective" PRSS1 c.-408C > T variant. Here, we extended the resequencing to 626 French Caucasians (242 idiopathic CP patients and 384 controls). We discovered three additional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27432637
DOI: 10.1002/humu.23053

Genes

PRSS1
ATF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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