Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.R497H
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CYP2D6

NM_000106.6:p.R497H

Associated Papers

Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population.

Fukunaga K et al.

Journal of Human Genetics, 2021

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF
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