Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q372L
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CFTR

NM_000492.4:p.Q372L

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

Integrated Genomic, Epigenomic, and Expression Analyses of Ovarian Cancer Cell Lines.

Papp E et al.

Cell Reports, 2018

30485824 (PubMed )
Supplement: NIHMS1010161-supplement-Suppl_Tables.xlsx › S1f
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