Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.C318S
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GATA3

NM_001002295.2:p.C318S

Associated Papers

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

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

Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report.

Kojima M et al.

Oncotargets and Therapy, 2018

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

Nakamura A et al.

Endocrine Journal, 2011

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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."