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1 records shown · first 60Mutational analysis of CYP1B1 (rs56010818) variant in primary open angle glaucoma (POAG) affected patients of Pakistan.
PMID 35002398 | PMCID PMC8716894 | DOI 10.1016/j.sjbs.2021.08.066 · Saudi journal of biological sciences · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs56010818 | “Mutational analysis of CYP1B1 (rs56010818) variant in primary open angle glaucoma (POAG) affected patients of Pakistan.” | 0.90 | hgvs_regex_v1 |
| gene | CYP1B1 | “Mutational analysis of CYP1B1 (rs56010818) variant in primary open angle glaucoma (POAG) affected patients of Pakistan.” | 0.98 | hgnc_dict_v1 |
| variant | R390H | “CONCLUSIONS: Our study provided the mutational data of CYP1B1 R390H variant and the patterns of homozygosity and heterozygosity along with clinical associations.” | 0.82 | literature_variant_regex_v2 |