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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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Phenotype
Retinitis pigmentosa
88articles
88mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.
PMID 28419563 | DOI 10.1111/cga.12225 · Congenital anomalies · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinitis pigmentosa | “Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.910_911insT | “WES data analysis identified a novel insertion mutation in the EYS (eyes shut homolog) gene (c.910_911insT; p.Trp304LeufsTer8).” | 0.95 | hgvs_regex_v1 |
| gene | EYS | “Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Whole exome sequencing was used to detect the underlying genetic defect in a large family with 12 affected individuals showing autosomal recessive isolated RP.” | 0.95 | saudi_context_rules_v1 |