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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 60Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.
PMID 35892439 | PMCID PMC9326729 | DOI 10.3390/clinpract12040053 · Clinics and practice · 2022 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinitis pigmentosa | “Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Pro429Leu | “Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%.” | 0.95 | hgvs_regex_v1 |
| gene | AGBL5 | “Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |