Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.I173T
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CYP21A2

NM_000500.9:p.I173T

Associated Papers

Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome.

Joo EY et al.

Frontiers in Endocrinology, 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."