Varaico: Literature-Extracted Genetic Variants

Gene:PRSS2
Variant:p.L104P
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PRSS2

NM_002770.4:p.L104P

Associated Papers

Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.

Zou WB et al.

Human Genetics, 2022

Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Mayerle J et al.

Gastroenterology, 2019

Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.

Wang W et al.

Bmj Open, 2013

24002981 (PubMed )
Supplement: bmjopen-2013-003150.draft_revisions.pdf

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

[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."