Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.Q197_G198Splc
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PRSS1

NM_002769.5:p.Q197_G198Splc

Associated Papers

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.

Masson E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Sofia VM et al.

Molecular Medicine (cambridge, Mass.), 2018

Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

Giefer MJ et al.

The Journal of Pediatrics, 2017

Evaluating Adults With Idiopathic Pancreatitis for Genetic Predisposition: Higher Prevalence of Abnormal Results With Use of Complete Gene Sequencing.

Ballard DD et al.

Pancreas, 2015

Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

Németh BC et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014

The histopathology of PRSS1 hereditary pancreatitis.

Singhi AD et al.

The American Journal of Surgical Pathology, 2014

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

Szmola R et al.

Journal of Medical Genetics, 2010

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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."