Clarifying the clinical relevance ofSPINK1intronic variants in chronic pancreatitis
Author:
Publisher
BMJ
Subject
Gastroenterology
Reference8 articles.
1. Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639;Boulling;Gut,2015
2. Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk;Beer;Gut,2013
3. Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis;Schnúr;Gut,2014
4. Exonic variants affecting pre-mRNA splicing add to genetic burden in chronic pancreatitis;Beer;Gut,2014
5. Sahin-Tóth M , Nemeth B . Genetic risk factors in chronic pancreatitis. http://www.pancreasgenetics.org/index.php (accessed 12 Nov 2015).
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2. Heterozygous Spink1 c.194+2T>C mutation promotes chronic pancreatitis after acute attack in mice;Pancreatology;2024-08
3. Pancreas-directed AAV8 -hSPINK1 gene therapy safely and effectively protects against pancreatitis in mice;Gut;2024-03-29
4. Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants;Human Genomics;2024-02-27
5. Genetic Factors Associated with Adverse Pregnancy Outcomes in Chronic Pancreatitis;Clinical and Translational Gastroenterology;2024-02-09
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