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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SBF1

Variant:p.R1544insFs

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SBF1

NM_002972.4:p.R1544insFs

hg38:chr22:50455065 G>GC

Associated Papers

Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.

Alhazmi AS et al.

Neurosciences (riyadh, Saudi Arabia), 2025

41290347 (PubMed )

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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."