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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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Phenotype
Retinal dystrophy
- HPO
- HP:0000556
121articles
121mentions
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 60Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
PMID 36595661 | PMCID PMC10262898 | DOI 10.1002/ajmg.a.63108 · American journal of medical genetics. Part A · 2023 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinal dystrophy | “Candidate gene exons were sequenced with a targeted retinal dystrophy panel.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.3134del | “DNA sequencing of affected individuals revealed a homozygous CRB1 NM_201253.3:c.3134del pathogenic variant, which was heterozygous in their parents.” | 0.95 | hgvs_regex_v1 |
| gene | CRB1 | “Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.” | 0.98 | phenotype_alias_lexicon_v2 |