Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.L404_S405insC
Back to variants list

GATA3

NM_001002295.2:p.L404_S405insC

Associated Papers

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

Lin YH et al.

Mutation Research, 2015

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

Nakamura A et al.

Endocrine Journal, 2011

Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.

Hernández AM et al.

American Journal of Medical Genetics. Part A, 2007

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."