Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.D235E
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CYP21A2

NM_000500.9:p.D235E

Associated Papers

Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology.

Chen Y et al.

Risk Management and Healthcare Policy, 2025

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.

Adachi E et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."