Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.D234E
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AR

NM_000044.6:p.D234E

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

Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.

Zheng GY et al.

Journal of Endocrinological Investigation, 2023

Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.

Mehta P et al.

Andrologia, 2021

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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."