Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.C318Y
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GATA3

NM_001002295.2:p.C318Y

Associated Papers

Genetic screening in a large Chinese cohort of adult-onset non-surgical hypoparathyroidism.

Yang J et al.

Endocrine, 2025

A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.

Hasegawa Y et al.

Endocrine Journal, 2024

A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.

Tao Y et al.

Frontiers in Genetics, 2023

37693317 (PubMed )
Supplement: Table1.xlsx › Sheet1

Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.

Mitsui T et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."