Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.P227fs
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GATA3

NM_001002295.2:p.P227fs

Associated Papers

An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15.

Satariano M et al.

Case Reports in Nephrology, 2025

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.

Huang B et al.

Molecular Genetics and Metabolism Reports, 2024

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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."