Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C3
Variant:p.A215T
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AKR1C3

NM_003739.6:p.A215T

Associated Papers

Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.

Detlefsen AJ et al.

International Journal of Molecular Sciences, 2023

Etiology of Hypospadias: A Comparative Review of Genetic Factors and Developmental Processes Between Human and Animal Models.

Chang J et al.

Research and Reports in Urology, 2020

Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.

Söderhäll C et al.

European Journal of Human Genetics : Ejhg, 2015

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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."