Varaico: Literature-Extracted Genetic Variants

Gene:TBX2
Variant:p.D326delFs
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TBX2

NM_005994.4:p.D326delFs

Associated Papers

Generation of induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation.

Hua W et al.

Stem Cell Research, 2026

Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus.

Hua W et al.

Journal of Medical Genetics, 2025

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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."