Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S182R
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CFTR

NM_000492.4:p.S182R

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

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Kondratyeva E et al.

Frontiers in Genetics, 2024

39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1
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