Varaico: Literature-Extracted Genetic Variants

Gene:TTC21B
Variant:p.E414*
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TTC21B

NM_024753.5:p.E414*

Associated Papers

A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.

Wang D et al.

Molecular Genetics & Genomic Medicine, 2022

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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."