Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.L30F
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CYP21A2

NM_000500.9:p.L30F

Associated Papers

Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia.

Jiddou RR et al.

Clinical Chemistry, 1999

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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."