Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.S237insFs
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GATA3

NM_001002295.2:p.S237insFs

Associated Papers

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

Huang B et al.

Molecular Genetics and Metabolism Reports, 2024

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.

Wang L et al.

Chinese Medical Journal, 2017

GATA3 abnormalities in six patients with HDR syndrome.

Fukami M et al.

Endocrine Journal, 2011

[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province].

Ji YB et al.

Zhonghua Yi Xue Za Zhi, 2009

Identification of a novel insertion mutation in GATA3 with HDR syndrome.

Mino Y et al.

Clinical and Experimental Nephrology, 2005

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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."