Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.H466Q
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SBF1

NM_002972.4:p.H466Q

Associated Papers

A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3.

Liu H et al.

Frontiers in Neurology, 2024

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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."