Varaico: Literature-Extracted Genetic Variants

Gene:NR2F2
Variant:p.V286fs
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NR2F2

NM_021005.4:p.V286fs

Associated Papers

Rare pathogenic NR2F2 (COUP-TFII) variants as potential etiological causes in pediatric patients with congenital heart diseases (CHDs).

Mansoor W et al.

Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese, 2025

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Ganapathi M et al.

European Journal of Human Genetics : Ejhg, 2023

Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.

Upadia J et al.

American Journal of Medical Genetics. Part A, 2018

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