Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.L173Q
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HSD3B2

NM_000198.4:p.L173Q

Associated Papers

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.

Liang D et al.

Genome Medicine, 2025

Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.

Graves LE et al.

Frontiers in Endocrinology, 2025

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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."