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Article

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.

Advanced science (Weinheim, Baden-Wurttemberg, Germany) - 1 Oct 2024

Wang Min-Jun, Wang Yuan-Chen, Masson Emmanuelle, Wang Ya-Hui, Yu Dong, Qian Yang-Yang, Tang Xin-Ying, Deng Shun-Jiang, Hu Liang-Hao, Wang Lei, Wang Li-Juan, Rebours Vinciane, Cooper David N, Férec Claude, Li Zhao-Shen, Chen Jian-Min, Zou Wen-Bin, Liao Zhuan

Abstract excerpt

Chronic pancreatitis (CP) is a complex disease with genetic and environmental factors at play. Through trio exome sequencing, a de novo SEC16A frameshift variant in a Chinese teenage CP patient is identified. Subsequent targeted next-generation sequencing of the SEC16A gene in 1,061 Chinese CP patients and 1,196 controls reveals a higher allele frequency of rare nonsynonymous SEC16A variants in patients (4.90% vs...

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Identifiers

PMID: 39119875
DOI: 10.1002/advs.202402550
PMCID: PMC11481239

Genes

SEC16A
CP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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