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1 records shown · first 60PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia.
PMID 18766996 | DOI 10.1080/13816810802078195 · Ophthalmic genetics · 2008 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg240X | “Affected individuals in Family #2 had heterozygosity for a commonly-reported PAX6 nonsense mutation (p.Arg240X).” | 0.95 | hgvs_regex_v1 |
| gene | PAX6 | “PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “METHODS: Interventional cases series of two unrelated affected Saudi Arabian families.” | 0.95 | saudi_context_rules_v1 |