Varaico: Literature-Extracted Genetic Variants

Gene:TBCK
Variant:p.N457fs
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TBCK

NM_001163435.3:p.N457fs

Associated Papers

Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.

Gao J et al.

Frontiers in Oncology, 2021

33996539 (PubMed )
Supplement: DataSheet_8.xlsx › Table_S5

Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.

Saredi S et al.

Muscle & Nerve, 2020

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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."