Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.R229C
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CYBB

NM_000397.4:p.R229C

Associated Papers

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.

Kong SW et al.

Npj Genomic Medicine, 2025

40021654 (PubMed )
Supplement: 41525_2025_480_MOESM1_ESM.pdf
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