Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.L308_S309Splc
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GATA3

NM_001002295.2:p.L308_S309Splc

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

Clinical and molecular predictors of very late recurrence in oestrogen receptor-positive breast cancer patients.

Richman J et al.

Breast Cancer Research and Treatment, 2024

38709373 (PubMed )
Supplement: 10549_2024_7311_MOESM2_ESM.xlsx › Suppl_Table_5

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site.

Gonçalves CI et al.

Frontiers in Endocrinology, 2023

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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."