Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D36A
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CFTR

NM_000492.4:p.D36A

Associated Papers

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

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4a_-_Prenatal_screening

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

Architecture and functional properties of the CFTR channel pore.

Linsdell P

Cellular and Molecular Life Sciences : Cmls, 2017

Positioning of extracellular loop 1 affects pore gating of the cystic fibrosis transmembrane conductance regulator.

Infield DT et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2016

Interaction between 2 extracellular loops influences the activity of the cystic fibrosis transmembrane conductance regulator chloride channel.

Broadbent SD et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014

Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.

Gao X et al.

Biophysical Journal, 2013

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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."