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1 records shown · first 60Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.
PMID 19758376 | DOI 10.1111/j.1399-0004.2009.01278.x · Clinical genetics · 2009 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1800520 | “In addition, it was noted that the non-pathogenic c.834C> G mutation (rs1800520, encoding for p.Ser278Arg) occurs with high incidence in the AIRE gene of Arab individuals.” | 0.90 | hgvs_regex_v1 |
| gene | AIRE | “Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “In addition to the cardinal features of APS1, some patients exhibited alopecia, diabetes mellitus, nephrocalcinosis and other phenotypes associated with APS1.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Ser278Arg | “In addition, it was noted that the non-pathogenic c.834C> G mutation (rs1800520, encoding for p.Ser278Arg) occurs with high incidence in the AIRE gene of Arab individuals.” | 0.95 | hgvs_regex_v1 |