Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.A547insFs
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TBR1

NM_006593.4:p.A547insFs

Associated Papers

Recurrent TBR1-related developmental disorder in a Chinese family caused by a low-level mosaic parent.

Zhen L et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2026

Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.

Zhang W et al.

Journal of Clinical Laboratory Analysis, 2022

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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."