Varaico: Literature-Extracted Genetic Variants

Gene:NR4A2
Variant:p.S110fs
Back to variants list

NR4A2

NM_006186.4:p.S110fs

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

Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing.

Blázquez A et al.

Frontiers in Psychiatry, 2025

Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.

Spagnoli C 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

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

Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.

Ramos LLP et al.

Clinical Case Reports, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."