Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.R255C
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NR5A1

NM_004959.5:p.R255C

Associated Papers

The acyl chains of phosphoinositide PIP3 alter the structure and function of nuclear receptor steroidogenic factor-1.

Bryant JM et al.

Journal of Lipid Research, 2021

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

Fabbri-Scallet H et al.

Human Mutation, 2020

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P

Molecular and Cellular Endocrinology, 2015

The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1.

Blind RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.

Philibert P et al.

Fertility and Sterility, 2013

Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.

Jiao X et al.

Plos One, 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."