Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K684N
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CFTR

NM_000492.4:p.K684N

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

Molecular Heterogeneity in Cystic Fibrosis.

Civan HA et al.

Journal of Pediatric Genetics, 2020

[Treatment of Cystic Fibrosis with CFTR Modulators].

Tümmler B

Pneumologie (stuttgart, Germany), 2016

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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."