Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.A11V
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SPINK1

NM_001379610.1:p.A11V

Associated Papers

Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report.

Liu Y et al.

Frontiers in Pediatrics, 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

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

Pancreatic Cancer Cell Lines Heterozygous for the SPINK1 p.N34S Haplotype Exhibit Diminished Expression of the Variant Allele.

Kereszturi É et al.

Pancreas, 2017

High Prevalence of Serine Protease Inhibitor Kazal Type 1 Gene Variations Detected by Whole Gene Sequencing in Patients with Fibrocalculous Pancreatic Diabetes.

Kolly A et al.

Indian Journal of Endocrinology and Metabolism, 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."