Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.L8F
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SPINK1

NM_001379610.1:p.L8F

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

Functional significance of SPINK1 promoter variants in chronic pancreatitis.

Derikx MH et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2015

Genetics and pathogenesis of chronic pancreatitis: the 2012 update.

Chen JM et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Assessing the pathological relevance of SPINK1 promoter variants.

Boulling A et al.

European Journal of Human Genetics : Ejhg, 2011

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

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

Pfützer RH et al.

Gastroenterology, 2000

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