Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.S198*
Back to variants list

GATA3

NM_001002295.2:p.S198*

Associated Papers

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

Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Sakihama S et al.

Cancer Science, 2021

33426772 (PubMed )
Supplement: CAS-112-1300-s002.xlsx › Table_S4

Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing.

Lin YH et al.

Mutation Research, 2015

A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Nanba K et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."