Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.Q60L
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AKR1B1

NM_001628.4:p.Q60L

Associated Papers

Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.

Chen H et al.

Biology of Sex Differences, 2024

Whole-exome sequencing study of hypospadias.

Chen Z et al.

Iscience, 2023

A case of a 22-year-old man with primary synovial sarcoma of the parapharyngeal space with an AR somatic mutation: A case report and review of the literature.

Jiang H et al.

Sage Open Medical Case Reports, 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."