Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.L173H
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POR

NM_001395413.1:p.L173H

Associated Papers

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

Graves LE et al.

Frontiers in Endocrinology, 2025

CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function.

Schubert T et al.

Journal of the Endocrine Society, 2022

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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."