Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q237P
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CFTR

NM_000492.4:p.Q237P

Associated Papers

A Unique Combination of Heterozygous <italic>CFTR</italic> Gene Variants in a Person with Cystic Fibrosis and <italic>Mycobacterium abscessus</italic> Infection.

Lemson A et al.

Respiration; International Review of Thoracic Diseases, 2025

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
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