Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.G218Splc
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AIRE

NM_000383.4:p.G218Splc

Associated Papers

Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.

Huang C et al.

Annals of Medicine, 2025

39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S3.xlsx › Table_S3

Genetic characteristics of common variable immunodeficiency patients with autoimmunity.

Liu Z et al.

Frontiers in Genetics, 2023

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Chau JFT et al.

Npj Genomic Medicine, 2022

35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV

Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.

Chan OYM et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2021

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