Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.Q380*
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SBF1

NM_002972.4:p.Q380*

Associated Papers

Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1.

Du N et al.

The Application of Clinical Genetics, 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."