Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.C288Y
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GATA3

NM_001002295.2:p.C288Y

Associated Papers

Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family.

Pan S et al.

Endocrine, 2025

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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."