Varaico: Literature-Extracted Genetic Variants

Gene:PRSS2
Variant:p.D19A
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PRSS2

NM_002770.4:p.D19A

Associated Papers

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

Khan E et al.

Global Medical Genetics, 2023

Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Mayerle J et al.

Gastroenterology, 2019

Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.

Geisz A et al.

The Febs Journal, 2013

Genetics and pathogenesis of chronic pancreatitis: the 2012 update.

Chen JM et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

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

Derikx MH et al.

Best Practice & Research. Clinical Gastroenterology, 2010

Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.

Szmola R et al.

Journal of Medical Genetics, 2010

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Teich N et al.

Human Mutation, 2006

Trypsinogen mutations in pancreatic disorders.

Vitone LJ et al.

Endocrinology and Metabolism Clinics of North America, 2006

Cationic trypsinogen mutations and pancreatitis.

Howes N et al.

Gastroenterology Clinics of North America, 2004

Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).

Teich N et al.

Human Mutation, 2004

[A case of chronic pancreatitis in a young woman with the cationic trypsinogen (PRSS1) gene mutation].

Kakinoki K et al.

Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 2002

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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."