Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L49L
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CFTR

NM_000492.4:p.L49L

Associated Papers

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Wong SL et al.

Iscience, 2022

35072004 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.

Girodon E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020

Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

Giefer MJ et al.

The Journal of Pediatrics, 2017

Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Bartoszewski R et al.

Cellular & Molecular Biology Letters, 2016

28536625 (PubMed )
Supplement: 11658_2016_25_MOESM2_ESM.xlsx › Sheet2

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

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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."