Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F311C
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CFTR

NM_000492.4:p.F311C

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

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

29581173 (PubMed )
Supplement: JGP_201711946_TableS1.pdf

CFTR gating: Invisible transitions made visible.

Csanády L

The Journal of General Physiology, 2017

Electrostatic tuning of the pre- and post-hydrolytic open states in CFTR.

Zhang J et al.

The Journal of General Physiology, 2017

The Fifth Transmembrane Segment of Cystic Fibrosis Transmembrane Conductance Regulator Contributes to Its Anion Permeation Pathway.

Zhang J et al.

Biochemistry, 2015

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