Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R25W
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CFTR

NM_000492.4:p.R25W

Associated Papers

Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Mayerle J et al.

Gastroenterology, 2019

The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.

LaRusch J et al.

Clinical and Translational Gastroenterology, 2015

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

Paliwal S et al.

Gut, 2013

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Beer S et al.

Gut, 2013

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

Chymotrypsin C mutations in chronic pancreatitis.

Zhou J et al.

Journal of Gastroenterology and Hepatology, 2011

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

Derikx MH et al.

Best Practice & Research. Clinical Gastroenterology, 2010

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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."