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Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
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1 records shown · first 60A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
PMID 17224759 | DOI 10.1097/01.ijg.0000212288.00917.e1 · Journal of glaucoma · 2007 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | E173K | “RESULTS: Three CYP1B1 mutations were identified in 5 PCG patients (45.4%) of which 2 were novel (homozygous E173K and heterozygous N498D) and the third (G61E) had previously been reported.” | 0.82 | literature_variant_regex_v2 |
| gene | CYP1B1 | “PURPOSE: To undertake mutation screening of cytochrome P4501B1 (CYP1B1, OMIM 601771) and myocilin (MYOC, OMIM 601652) genes in Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “PURPOSE: To undertake mutation screening of cytochrome P4501B1 (CYP1B1, OMIM 601771) and myocilin (MYOC, OMIM 601652) genes in Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).” | 0.98 | phenotype_alias_lexicon_v2 |