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1 records shown · first 60CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.
PMID 24099281 | DOI 10.3109/13816810.2013.841961 · Ophthalmic genetics · 2015 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.L432V | “Two patients had p.G61E mutation in a compound heterozygous status with another CYP1B1 mutation (p.L432V).” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes.” | 0.98 | hgnc_dict_v1 |
| gene | LTBP2 | “Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes.” | 0.98 | hgnc_dict_v1 |