Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F337L
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CFTR

NM_000492.4:p.F337L

Associated Papers

Correction: Role of Hydrophobic Amino-Acid Side-Chains in the Narrow Selectivity Filter of the CFTR Chloride Channel Pore in Conductance and Selectivity.

Linsdell P

The Journal of Membrane Biology, 2024

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

Role of Hydrophobic Amino-Acid Side-Chains in the Narrow Selectivity Filter of the CFTR Chloride Channel Pore in Conductance and Selectivity.

Linsdell P

The Journal of Membrane Biology, 2023

Architecture and functional properties of the CFTR channel pore.

Linsdell P

Cellular and Molecular Life Sciences : Cmls, 2017

Functional architecture of the CFTR chloride channel.

Linsdell P

Molecular Membrane Biology, 2014

Molecular determinants of anion selectivity in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Linsdell P et al.

Biophysical Journal, 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."