Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.Q71*
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SH3TC2

NM_024577.4:p.Q71*

Associated Papers

Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants.

Loret C et al.

European Journal of Cell Biology, 2025

Addressing myelination disorders: Novel strategies using human 3D peripheral nerve model.

Loret C et al.

Brain Research Bulletin, 2025

CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants.

Loret C et al.

Biomedicines, 2024

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J et al.

Bmj Open, 2018

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.

Scherrer C et al.

Journal of Tissue Engineering, 0

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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."