Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.E29V
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SPINK1

NM_001379610.1:p.E29V

Associated Papers

A Case Report on Protease Serine 1 (PRSS1)-Related Acute Pancreatitis.

Vijayakumar V et al.

Cureus, 2025

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.

Wu H et al.

Human Genomics, 2024

Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia.

Litvinova MM et al.

Sovremennye Tekhnologii V Meditsine, 2023

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."