Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.A152Splc
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PRSS1

NM_002769.5:p.A152Splc

Associated Papers

Genetic Analysis of Japanese Children With Acute Recurrent and Chronic Pancreatitis.

Saito N et al.

Journal of Pediatric Gastroenterology and Nutrition, 2016

Genetics of pancreatitis: the 2014 update.

Masamune A

The Tohoku Journal of Experimental Medicine, 2014

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Masson E et al.

Plos One, 2013

23951356 (PubMed )
Supplement: pone.0073522.s001.xls › Feuil1

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

Kume K et al.

Journal of Gastroenterology, 2012

Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects.

Chang YT et al.

Gut, 2009

The natural history of hereditary pancreatitis: a national series.

Rebours V et al.

Gut, 2009

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

Masamune A et al.

Journal of Gastroenterology, 2007

Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

Masson E et al.

European Journal of Human Genetics : Ejhg, 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

Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.

Le Maréchal C et al.

Human Mutation, 2004

Genetic testing in chronic pancreatitis.

Tazelaar JP et al.

Expert Review of Molecular Diagnostics, 2003

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

Truninger K et al.

Swiss Medical Weekly, 2001

SPINK1 mutations in chronic pancreatitis.

Witt H et al.

Gastroenterology, 2001

SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.

Pfützer RH et al.

Gastroenterology, 2000

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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