Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.S1175N
Back to variants list

SKIC3

NM_014639.4:p.S1175N

Associated Papers

Novel compound heterozygous stop-gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency.

Phan ANL et al.

Molecular Genetics & Genomic Medicine, 2020

32154999 (PubMed )
Supplement: MGG3-8-e1216-s001.docx
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."