Varaico: Literature-Extracted Genetic Variants

Gene:NR4A2
Variant:p.R319Q
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NR4A2

NM_006186.4:p.R319Q

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

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.

Gabaldon-Albero A et al.

International Journal of Molecular Sciences, 2024

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Martínez-Rubio D et al.

International Journal of Molecular Sciences, 2022

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

NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.

Jesús S et al.

Neurology. Genetics, 2021

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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."