Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.G144_H145insFs
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GATA3

NM_001002295.2:p.G144_H145insFs

Associated Papers

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.

Joseph ADD et al.

Bmc Endocrine Disorders, 2019

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.

Nakamura A et al.

Endocrine Journal, 2011

A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism.

Saito T et al.

Journal of Bone and Mineral Metabolism, 2009

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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."