Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.C48R
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PRSS1

NM_002769.5:p.C48R

Associated Papers

SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.

Wang YC et al.

American Journal of Human Genetics, 2025

Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.

Girodon E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020

Functional significance of SPINK1 promoter variants in chronic pancreatitis.

Derikx MH et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2015

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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."