Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.Q1010fs
Back to variants list

SKIC2

NM_006929.5:p.Q1010fs

Associated Papers

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.

Serwas NK et al.

Nature Communications, 2019

31308374 (PubMed )
Supplement: 41467_2019_10812_MOESM1_ESM.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."