Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.G214R
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AKR1B1

NM_001628.4:p.G214R

Associated Papers

Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.

Yuan Z et al.

European Journal of Endocrinology, 2024

Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review.

Goglia U et al.

Fertility and Sterility, 2011

Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.

Deeb A et al.

Clinical Endocrinology, 2005

Androgen receptor polymorphisms and mutations in male infertility.

Yong EL et al.

Journal of Endocrinological Investigation, 2000

Genetics of male infertility: role of androgen receptor mutations and Y-microdeletions.

Yong EL et al.

Annals of the Academy of Medicine, Singapore, 2000

Analysis of exon 1 mutations in the androgen receptor gene.

Gottlieb B et al.

Human Mutation, 1999

Analysis of the transactivation domain of the androgen receptor in patients with male infertility.

Wang Q et al.

Clinical Genetics, 1998

Androgen receptor gene and male infertility.

Yong EL et al.

Human Reproduction Update, 0

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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."