Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.A287D
Back to variants list

GATA3

NM_001002295.2:p.A287D

Associated Papers

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp.

Vroegindewey L et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2024

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."