Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.F42F
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RP2

NM_006915.3:p.F42F

Associated Papers

Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation.

Zhang X et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.

Zhang X et al.

Journal of Endocrinological Investigation, 2024

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.

Toraman B et al.

Gene, 2013

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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."