Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.L72P
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SPINK1

NM_001379610.1:p.L72P

Associated Papers

Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.

Paiella S et al.

United European Gastroenterology Journal, 2026

41691430 (PubMed )
Supplement: UEG2-14-e70187-s001.xlsx › Sheet1

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
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