Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.G246Fs
Back to variants list

GATA3

NM_001002295.2:p.G246Fs

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

Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature.

Kylat RI

Journal of Pediatric Genetics, 2017

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.

Wang L et al.

Chinese Medical Journal, 2017

HDR syndrome in a Japanese girl with biliary atresia: a case report.

Higuchi Y et al.

Bmc Pediatrics, 2016

[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province].

Ji YB et al.

Zhonghua Yi Xue Za Zhi, 2009

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."