Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.N33insFs
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PRSS1

NM_002769.5:p.N33insFs

Associated Papers

Genetics of pancreatitis: a guide for clinicians.

Witt H

Digestive Diseases (basel, Switzerland), 2010

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

Boulling A et al.

European Journal of Human Genetics : Ejhg, 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

Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.

Kalinin VN et al.

World Journal of Gastroenterology, 2006

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

Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.

Gaia E et al.

Digestive Diseases and Sciences, 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."