Varaico: Literature-Extracted Genetic Variants

Gene:FOXA2
Variant:p.R256S
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FOXA2

NM_021784.5:p.R256S

Associated Papers

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

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

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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."