Varaico: Literature-Extracted Genetic Variants

Gene:NR4A2
Variant:p.S125C
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NR4A2

NM_006186.4:p.S125C

Associated Papers

Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.

Borden C et al.

American Journal of Medical Genetics. Part A, 2025

Mechanisms of NURR1 Regulation: Consequences for Its Biological Activity and Involvement in Pathology.

García-Yagüe ÁJ et al.

International Journal of Molecular Sciences, 2023

Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review.

Song X et al.

Frontiers in Neuroscience, 2022

Characterisation of a novel NR4A2 mutation in Parkinson's disease brain.

Sleiman PM et al.

Neuroscience Letters, 2009

Nurr1 transcriptionally regulates the expression of alpha-synuclein.

Yang YX et al.

Neuroreport, 2008

A Nurr1 point mutant, implicated in Parkinson's disease, uncouples ERK1/2-dependent regulation of tyrosine hydroxylase transcription.

Jacobsen KX et al.

Neurobiology of Disease, 2008

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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."