Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.A23_D24insFs
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SPINK1

NM_001379610.1:p.A23_D24insFs

Associated Papers

Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant.

Budhwar V et al.

Scientific Reports, 2024

Roles of serine protease inhibitor Kazal type 1 (SPINK1) in pancreatic diseases.

Ohmuraya M et al.

Experimental Animals, 2011

[Effect of pancreatic secretory trypsin gene mutations on the development of chronic pancreatitis].

Kucheriavyĭ IuA et al.

Eksperimental'naia I Klinicheskaia Gastroenterologiia = Experimental & Clinical Gastroenterology, 2011

[SPINK1 N34S mutation as a possible cause of chronic pancreatitis in a patient with familial background].

Oh HC et al.

The Korean Journal of Gastroenterology = Taehan Sohwagi Hakhoe Chi, 2007

Differential roles of the SPINK1 gene mutations in alcoholic and nonalcoholic chronic pancreatitis.

Masamune A et al.

Journal of Gastroenterology, 2007

Germline mutations and gene polymorphism associated with human pancreatitis.

Weiss FU et al.

Endocrinology and Metabolism Clinics of North America, 2006

From acute to chronic pancreatitis: the role of mutations in the pancreatic secretory trypsin inhibitor gene.

Hirota M et al.

Jop : Journal of the Pancreas, 2003

Mutational analysis of the pancreatic secretory trypsin inhibitor gene in familial and juvenile pancreatitis in Japan.

Kuwata K et al.

Journal of Gastroenterology, 2003

Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.

Kuwata K et al.

Journal of Gastroenterology, 2002

Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis.

Chen JM et al.

Gastroenterology, 2001

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

Witt H et al.

Nature Genetics, 2000

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."