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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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1 records shown · first 60Late presentation of RPE65 retinopathy in three siblings.
PMID 31925606 | PMCID PMC7205780 | DOI 10.1007/s10633-019-09745-z · Documenta ophthalmologica. Advances in ophthalmology · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg91Trp | “A homozygous missense p.Arg91Trp mutation in RPE65 was identified in all.” | 0.95 | hgvs_regex_v1 |
| gene | RPE65 | “Late presentation of RPE65 retinopathy in three siblings.” | 0.98 | hgnc_dict_v1 |
| gene | ERG | “METHODS: Search of the retinal dystrophy registry at King Khaled Eye Specialist Hospital and clinical examination including multimodal retinal imaging, full-field electroretinography (ERG), dark adapted full-field stimulus sensitivity thresholds, and molecular genetic testing in 3 patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “METHODS: Search of the retinal dystrophy registry at King Khaled Eye Specialist Hospital and clinical examination including multimodal retinal imaging, full-field electroretinography (ERG), dark adapted full-field stimulus sensitivity thresholds, and molecular genetic testing in 3 patients.” | 0.98 | phenotype_alias_lexicon_v2 |