Varaico: Literature-Extracted Genetic Variants

Gene:NR4A2
Variant:p.Q109insFs
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NR4A2

NM_006186.4:p.Q109insFs

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

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.

Rossen JL et al.

Genes, 2023

36980880 (PubMed )
Supplement: genes-14-00608-s001.zip › genes-2190704-supplementary.pdf

Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.

Villafranca-Magdalena B et al.

International Journal of Molecular Sciences, 2022

35682944 (PubMed )
Supplement: ijms-23-06266-s001.zip › Table_S5.xlsx › Hoja1

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

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Singh S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases
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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."