Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.W96fs
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GATA3

NM_001002295.2:p.W96fs

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

Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.

Wang Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome.

Chu XY et al.

Chinese Medical Journal, 2017

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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."