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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP21A2

Variant:p.P361L

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CYP21A2

NM_000500.9:p.P361L

hg38:chr6:32040548 C>T

Associated Papers

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

37815751 (PubMed )

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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."