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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SBF2

Variant:p.I255_I257del0

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SBF2

NM_030962.4:p.I255_I257del0

hg38:chr11:10001004 AATAGGG>A

Associated Papers

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.

Karakaya T et al.

Neurogenetics, 2022

35562614 (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."