Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G970V
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CFTR

NM_000492.4:p.G970V

Associated Papers

Clinical characteristics and genetic mutations of 10 Chinese children with cystic fibrosis or cystic frbrosis transmembrane conductance regulator-related disorders.

Tan S et al.

Chinese Medical Journal, 2024

37678334 (PubMed )
Supplement: cm9-137-1753-s001.pdf

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
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