Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R347S
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CFTR

NM_000492.4:p.R347S

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

Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.

Yeh HI et al.

The Journal of General Physiology, 2019

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