Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.Q98_Y99insA
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PRSS1

NM_002769.5:p.Q98_Y99insA

Associated Papers

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

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

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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."