Varaico: Literature-Extracted Genetic Variants

Gene:TBCB
Variant:p.Y197N
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TBCB

NM_001281.3:p.Y197N

Associated Papers

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.

Bratman Morag S et al.

Genetics in Medicine : Official Journal of the American College 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."