Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.N20K
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SPINK1

NM_001379610.1:p.N20K

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

Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers.

Bishop MA et al.

American Journal of Veterinary Research, 2010

High prevalence of the c.74A>C SPINK1 variant in miniature and standard Schnauzers.

Furrow E et al.

Journal of Veterinary Internal Medicine, 0

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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."