Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.G22insFs
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SPINK1

NM_001379610.1:p.G22insFs

Associated Papers

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

Genetic basis of chronic pancreatitis in Asia Pacific region.

Reddy DN et al.

Journal of Gastroenterology and Hepatology, 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

The SPINK1 N34S variant is associated with acute pancreatitis.

O'Reilly DA et al.

European Journal of Gastroenterology & Hepatology, 2008

N34S mutation in the SPINK1 gene is not associated with alternative splicing.

Masamune A et al.

Pancreas, 2007

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

Keiles S et al.

Pancreas, 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

CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.

Bernardino AL et al.

Jop : Journal of the Pancreas, 2003

Chronic pancreatitis and cystic fibrosis.

Witt H

Gut, 2003

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

Gene mutations in children with chronic pancreatitis.

Witt H

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

SPINK1 mutations are associated with multiple phenotypes.

Pfützer RH et al.

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."