Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.N350_I351Splc
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GATA3

NM_001002295.2:p.N350_I351Splc

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

Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.

Carlson RJ et al.

Jama Otolaryngology-- Head & Neck Surgery, 2023

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

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