Varaico: Literature-Extracted Genetic Variants

Gene:TMBIM4
Variant:p.K238delFs
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TMBIM4

NM_016056.4:p.K238delFs

Associated Papers

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

Kume K et al.

Bmc Medical Genetics, 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."