Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T164I
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CFTR

NM_000492.4:p.T164I

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

Lung disease modifier genes in cystic fibrosis.

Guillot L et al.

The International Journal of Biochemistry & Cell Biology, 2014

Genetic influences on cystic fibrosis lung disease severity.

Weiler CA et al.

Frontiers in Pharmacology, 2013

Update on gene modifiers in cystic fibrosis.

Collaco JM et al.

Current Opinion in Pulmonary Medicine, 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."