Varaico: Literature-Extracted Genetic Variants

Gene:TBCK
Variant:p.R126G
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TBCK

NM_001163435.3:p.R126G

Associated Papers

TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons.

Flores-Mendez M et al.

Biorxiv : the Preprint Server for Biology, 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."