Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.K66N
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PRSS1

NM_002769.5:p.K66N

Associated Papers

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

Giefer MJ et al.

The Journal of Pediatrics, 2017

Do genetic variants in the SPINK1 gene affect the level of serum PSTI?

Kume K et al.

Journal of Gastroenterology, 2012

Functional analysis of eight missense mutations in the SPINK1 gene.

Boulling A et al.

Pancreas, 2012

Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family.

Chua KH et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2011

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

Keiles S et al.

Pancreas, 2006

CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.

Bernardino AL et al.

Jop : Journal of the Pancreas, 2003

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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."