Varaico: Literature-Extracted Genetic Variants

Gene:POU4F1
Variant:p.E19*
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POU4F1

NM_006237.4:p.E19*

Associated Papers

Ataxia, intentional tremor and hypotonia syndrome caused by a novel POU4F1 gene mutation: a case report.

Hu Q et al.

Frontiers in Genetics, 2025

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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."