Varaico: Literature-Extracted Genetic Variants

Gene:NR2F2
Variant:p.P33_G35delFs
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NR2F2

NM_021005.4:p.P33_G35delFs

Associated Papers

Evidence for NR2F2/COUP-TFII involvement in human testis development.

Wankanit S et al.

Scientific Reports, 2024

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

Bashamboo A et al.

American Journal of Human Genetics, 2018

De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.

High FA et al.

American Journal of Medical Genetics. Part A, 2016

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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."