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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SH3TC2

Variant:p.E944G

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SH3TC2

NM_024577.4:p.E944G

hg38:chr5:149026901 T>C

Associated Papers

Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.

Lee AJ et al.

Journal of Human Genetics, 2019

31227790 (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."