Varaico: Literature-Extracted Genetic Variants

Gene:FOXA2
Variant:p.C222G
Back to variants list

FOXA2

NM_021784.5:p.C222G

Associated Papers

Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.

Zheng B et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022

Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects.

Kaygusuz SB et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.

Mohammed I et al.

Molecular Genetics & Genomic Medicine, 2020

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

Boda H et al.

European Journal of Medical Genetics, 2019

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Dines JN et al.

American Journal of Medical Genetics. Part A, 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."