Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.G227G
Back to variants list

AIRE

NM_000383.4:p.G227G

Associated Papers

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Deficit of Anterior Pituitary Function and Variable Immune Deficiency Syndrome: A Novel Mutation.

Poowuttikul P et al.

Global Pediatric Health, 2017

Autoantibodies to IL-17A may be correlated with the severity of mucocutaneous candidiasis in APECED patients.

Sarkadi AK et al.

Journal of Clinical Immunology, 2014

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."