Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.P45P
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SPINK1

NM_001379610.1:p.P45P

Associated Papers

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

38414044 (PubMed )
Supplement: 40246_2024_586_MOESM1_ESM.xlsx › Feuil1

Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

Németh BC et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014

Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Schnúr A et al.

Gut, 2014

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