Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.M1Fs
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AIRE

NM_000383.4:p.M1Fs

Associated Papers

A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.

Ochoa S et al.

Science Translational Medicine, 2024

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table
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