Varaico: Literature-Extracted Genetic Variants

Gene:NR2F2
Variant:p.C96*
Back to variants list

NR2F2

NM_021005.4:p.C96*

Associated Papers

Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.

Dong R et al.

Human Genomics, 2024

39472949 (PubMed )
Supplement: 40246_2024_683_MOESM2_ESM.xls › Sheet1

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

NR2F2 loss‑of‑function mutation is responsible for congenital bicuspid aortic valve.

Wang J et al.

International Journal of Molecular Medicine, 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."