Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63B
Variant:p.P688S
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TMEM63B

NM_018426.3:p.P688S

Associated Papers

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.

Tavernier SJ et al.

Nature Communications, 2019

31636267 (PubMed )
Supplement: 41467_2019_12704_MOESM3_ESM.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."