Varaico: Literature-Extracted Genetic Variants

Gene:NR4A2
Variant:p.R289fs
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NR4A2

NM_006186.4:p.R289fs

Associated Papers

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

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

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