Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.G19Splc
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SPINK1

NM_001379610.1:p.G19Splc

Associated Papers

Gene, genetics and genetic medicines in gastroenterology: Current status and its future.

Kumar A et al.

World Journal of Gastroenterology, 2026

Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.

Palao B et al.

Frontiers in Genetics, 2025

Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant.

Budhwar V et al.

Scientific Reports, 2024

Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.

Khan E et al.

Global Medical Genetics, 2023

Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.

Cheema HA et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2023

Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia.

Litvinova MM et al.

Sovremennye Tekhnologii V Meditsine, 2023

Combined SPINK1 mutations induce early-onset severe chronic pancreatitis in a child with severe obesity.

Abass MK et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

Serine Protease Inhibitor Kazal Type I (SPINK1) Mutation: A Risk Factor for Early-onset Chronic Pancreatitis?

Hama T et al.

Journal of Pediatric Gastroenterology and Nutrition, 2018

SPINK1 Promoter Variants in Chronic Pancreatitis.

Hegyi E et al.

Pancreas, 2016

Frequency of CFTR, SPINK1, and cathepsin B gene mutation in North Indian population: connections between genetics and clinical data.

Singh S et al.

Thescientificworldjournal, 2014

Do genetic variants in the SPINK1 gene affect the level of serum PSTI?

Kume K et al.

Journal of Gastroenterology, 2012

Genetics and pathogenesis of chronic pancreatitis: the 2012 update.

Chen JM et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Genetic basis of chronic pancreatitis in Asia Pacific region.

Reddy DN et al.

Journal of Gastroenterology and Hepatology, 2011

Roles of serine protease inhibitor Kazal type 1 (SPINK1) in pancreatic diseases.

Ohmuraya M et al.

Experimental Animals, 2011

[Effect of pancreatic secretory trypsin gene mutations on the development of chronic pancreatitis].

Kucheriavyĭ IuA et al.

Eksperimental'naia I Klinicheskaia Gastroenterologiia = Experimental & Clinical Gastroenterology, 2011

Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.

Derikx MH et al.

Best Practice & Research. Clinical Gastroenterology, 2010

Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.

Kereszturi E et al.

Gut, 2009

The SPINK1 N34S variant is associated with acute pancreatitis.

O'Reilly DA et al.

European Journal of Gastroenterology & Hepatology, 2008

Differential roles of the SPINK1 gene mutations in alcoholic and nonalcoholic chronic pancreatitis.

Masamune A et al.

Journal of Gastroenterology, 2007

SPINK1 gene mutations and pancreatitis in Japan.

Shimosegawa T et al.

Journal of Gastroenterology and Hepatology, 2006

Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.

Kume K et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2005

Serine protease inhibitor Kazal type 1 mutations and pancreatitis.

Schneider A

Gastroenterology Clinics of North America, 2004

Genetic testing in chronic pancreatitis.

Tazelaar JP et al.

Expert Review of Molecular Diagnostics, 2003

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.

Gomez-Lira M et al.

European Journal of Human Genetics : Ejhg, 2003

Chronic pancreatitis and cystic fibrosis.

Witt H

Gut, 2003

From acute to chronic pancreatitis: the role of mutations in the pancreatic secretory trypsin inhibitor gene.

Hirota M et al.

Jop : Journal of the Pancreas, 2003

Mutational analysis of the pancreatic secretory trypsin inhibitor gene in familial and juvenile pancreatitis in Japan.

Kuwata K et al.

Journal of Gastroenterology, 2003

Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.

Kuwata K et al.

Journal of Gastroenterology, 2002

Genetic aspects of chronic pancreatitis: insights into aetiopathogenesis and clinical implications.

Truninger K et al.

Swiss Medical Weekly, 2001

Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis.

Chen JM et al.

Gastroenterology, 2001

SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. A preliminary report.

Rossi L et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2001

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

Witt H et al.

Nature Genetics, 2000

High Prevalence of Serine Protease Inhibitor Kazal Type 1 Gene Variations Detected by Whole Gene Sequencing in Patients with Fibrocalculous Pancreatic Diabetes.

Kolly A et al.

Indian Journal of Endocrinology and Metabolism, 0

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