Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.G144fs
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GATA3

NM_001002295.2:p.G144fs

Associated Papers

A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Conroy JM et al.

Plos One, 2021

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation.

Kishi H et al.

Clinical Case Reports, 2020

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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."