Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.C58C
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SPINK1

NM_001379610.1:p.C58C

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

Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.

Girodon E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.

Wu H et al.

Genes, 2017

Functional significance of SPINK1 promoter variants in chronic pancreatitis.

Derikx MH et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2015

Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.

Derikx MH et al.

Best Practice & Research. Clinical Gastroenterology, 2010

Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.

Kume K et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2005

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.

Gomez-Lira M et al.

European Journal of Human Genetics : Ejhg, 2003

SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.

Pfützer RH et al.

Gastroenterology, 2000

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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."