Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.R324W
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SKIC2

NM_006929.5:p.R324W

Associated Papers

Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.

Malik D et al.

Genes and Immunity, 2022

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

Seven new loci associated with age-related macular degeneration.

Fritsche LG et al.

Nature Genetics, 2013

23455636 (PubMed )
Supplement: NIHMS474886-supplement-1.pdf

Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes.

Zawistowski M et al.

American Journal of Human Genetics, 2010

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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."