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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SH3TC2

Variant:p.Y898delFs

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SH3TC2

NM_024577.4:p.Y898delFs

hg38:chr5:149027037 GAT>G

Associated Papers

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

Yuan JH et al.

Journal of Human Genetics, 2018

29321516 (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."