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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SH3TC2

Variant:p.E152fs

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SH3TC2

NM_024577.4:p.E152fs

hg38:chr5:149042769 CTC>N

Associated Papers

Two novel SH3TC2 mutations predispose to Charcot-Marie-Tooth disease type 4C by mistargeting away from TFRC.

Li P et al.

Cellular Signalling, 2025

39961410 (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."