Varaico: Literature-Extracted Genetic Variants

Gene:TBCK
Variant:p.Q102*
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TBCK

NM_001163435.3:p.Q102*

Associated Papers

Multiple functions of TBCK protein in neurodevelopment disorders and tumors.

Wu J et al.

Oncology Letters, 2021

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

Beck-Wödl S et al.

Acta Neuropathologica Communications, 2018

Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

Wang N et al.

Human Mutation, 2017

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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."