Varaico: Literature-Extracted Genetic Variants

Gene:TBCK
Variant:p.H143Fs
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TBCK

NM_001163435.3:p.H143Fs

Associated Papers

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.

Hancarova M et al.

Molecular Genetics & Genomic Medicine, 2019

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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."