Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q98K
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CFTR

NM_000492.4:p.Q98K

Associated Papers

Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.

Linsdell P et al.

The Journal of Biological Chemistry, 2022

On the relationship between anion binding and chloride conductance in the CFTR anion channel.

Linsdell P

Biochimica Et Biophysica Acta. Biomembranes, 2021

Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Schnúr A et al.

Gut, 2014

Tuning of CFTR chloride channel function by location of positive charges within the pore.

El Hiani Y et al.

Biophysical Journal, 2012

The natural history of hereditary pancreatitis: a national series.

Rebours V et al.

Gut, 2009

Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series.

Rebours V et al.

The American Journal of Gastroenterology, 2008

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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."