Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.R114W
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NR5A1

NM_004959.5:p.R114W

Associated Papers

Mutation update for the NR5A1 gene involved in DSD and infertility.

Fabbri-Scallet H et al.

Human Mutation, 2020

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

Sudhakar DVS et al.

Andrologia, 2018

Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations.

Ferlin A et al.

Fertility and Sterility, 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."