Varaico: Literature-Extracted Genetic Variants

Gene:TBCK
Variant:p.N457delFs
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TBCK

NM_001163435.3:p.N457delFs

Associated Papers

Mutation profiles of diffuse large B-cell lymphoma transformation of splenic B-cell lymphoma/leukemia, unclassifiable on whole-exome sequencing.

Kurosawa S et al.

Ejhaem, 2021

Multiple functions of TBCK protein in neurodevelopment disorders and tumors.

Wu J et al.

Oncology Letters, 2021

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

Bhoj EJ et al.

American Journal of Human Genetics, 2016

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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."