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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 60Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family.
PMID 30588330 | PMCID PMC6300601 | DOI 10.1038/s41525-018-0074-3 · NPJ genomic medicine · 2018 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg267Trp | “Here, we report an extremely rare TP53 missense variant, c.799C > T (p.Arg267Trp), identified in a 2-year-old Saudi proband diagnosed with choroid plexus carcinoma (CPC) and six of his first- and second-degree relatives.” | 0.95 | hgvs_regex_v1 |
| gene | TP53 | “Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family. Here, we report an extremely rare TP53 missense variant, c.799C > T (p.Arg267Trp), identified in a 2-year-old Saudi proband diagnosed with choroid plexus carcinoma (CPC) and six of his first- and second-degree relatives.” | 0.95 | saudi_context_rules_v1 |