Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G91_E92Splc
Back to variants list

CFTR

NM_000492.4:p.G91_E92Splc

Associated Papers

Frequency of CFTR, SPINK1, and cathepsin B gene mutation in North Indian population: connections between genetics and clinical data.

Singh S et al.

Thescientificworldjournal, 2014

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Masson E et al.

Plos One, 2013

23951356 (PubMed )
Supplement: pone.0073522.s001.xls › Feuil1

The natural history of hereditary pancreatitis: a national series.

Rebours V et al.

Gut, 2009

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

Masamune A et al.

Journal of Gastroenterology, 2007

Serine protease inhibitor Kazal type 1 mutations and pancreatitis.

Schneider A

Gastroenterology Clinics of North America, 2004

Genetic testing in chronic pancreatitis.

Tazelaar JP et al.

Expert Review of Molecular Diagnostics, 2003

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."