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1 records shown · first 60Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema.
PMID 31213409 | DOI 10.1016/j.jiph.2019.05.020 · Journal of infection and public health · 2020 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2899642 | “However, from the analysis of the 6 samples, we have identified rs10192157 (1646C>T; Thr549Ile), rs2899642 (27C>G; Asn9Lys), chr1:152127950 (1625G>A; Gly542Asp) and chr1:152128041 (1534C>G; Gly512Arg) variants which are rarely linked to the disease eczema.” | 0.90 | hgvs_regex_v1 |
| phenotype | asthma | “However, the rs10192157 and rs2899642 mutations were documented with asthma disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | atopic dermatitis | “Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema. In Saudi Arabia, exome sequencing studies have not been documented. The purpose of this study was to scrutinize the disease causing mutations in children affected with eczema with exome sequencing in the Saudi population. RESULTS: In this study, we have documented 49 variants, among which 37 variants were confirmed through eczema children and remaining 30 variants through control children. This study recommends screening these 4 mutations in eczema cases and their relevant controls to confirm the prevalence in the Saudi population.” | 0.95 | saudi_context_rules_v1 |