Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.V675I
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SH3TC2

NM_024577.4:p.V675I

Associated Papers

OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death.

Damgaard RB et al.

Embo Molecular Medicine, 2019

30804083 (PubMed )
Supplement: EMMM-11-e9324-s001.pdf
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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."