Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.I323T
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NR5A1

NM_004959.5:p.I323T

Associated Papers

NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes.

Faienza MF et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019

NR5A1 mutations are not associated with male infertility in Indian men.

Sudhakar DVS et al.

Andrologia, 2018

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.

Röpke A et al.

European Journal of Human Genetics : Ejhg, 2013

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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."