Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.A91V
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PRSS1

NM_002769.5:p.A91V

Associated Papers

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table

Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis.

Chang YT et al.

Clinical Chemistry, 2008

SPINK1 gene mutations and pancreatitis in Japan.

Shimosegawa T et al.

Journal of Gastroenterology and Hepatology, 2006

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

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

Kuwata K et al.

Journal of Gastroenterology, 2003

Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis.

Kaneko K et al.

Journal of Human Genetics, 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

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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."