Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M156R
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CFTR

NM_000492.4:p.M156R

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-4.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3

Combining Ivacaftor and Intensive Antibiotics Achieves Limited Clearance of Cystic Fibrosis Infections.

Durfey SL et al.

Mbio, 2021

Ivacaftor modifies cystic fibrosis neutrophil phenotype in subjects with R117H residual function CFTR mutations.

Hardisty GR et al.

The European Respiratory Journal, 2021

Ivacaftor decreases monocyte sensitivity to interferon-γ in people with cystic fibrosis.

Hisert KB et al.

Erj Open Research, 2020

Ivacaftor-induced sweat chloride reductions correlate with increases in airway surface liquid pH in cystic fibrosis.

Abou Alaiwa MH et al.

Jci Insight, 2018

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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."