Varaico: Literature-Extracted Genetic Variants

Gene:TBCK
Variant:p.I688fs
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TBCK

NM_001163435.3:p.I688fs

Associated Papers

A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.

Dai H et al.

Human Mutation, 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."