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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 60A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.
PMID 32844072 | PMCID PMC7441036 | DOI 10.5582/irdr.2020.03033 · Intractable & rare diseases research · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.3706C>T | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.” | 0.95 | hgvs_regex_v1 |
| gene | ABCA7 | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | Parkinson disease | “In this article, we reported a middle-aged Saudi woman with a novel variant in ABCA7 who had clinical features of both AD and Parkinson's disease.” | 0.93 | phenotype_alias_lexicon_v2 |