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Combine gene, variant, phenotype, region and year filters
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 60Genetic Study of Alzheimer's Disease in Saudi Population.
PMID 30636737 | DOI 10.3233/JAD-180415 · Journal of Alzheimer's disease : JAD · 2019 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Pro1213Ser | “Five of these variants were not previously reported including four in SORL1 (p.Val297Met, p.Arg1084Cys, p.Asp1100Asn, and p.Pro1213Ser) and one in APP (p.Glu380Lys).” | 0.95 | hgvs_regex_v1 |
| gene | PSEN1 | “METHODS: Comprehensive screening for point mutations was carried out by direct sequencing of coding regions in the three known AD causative genes: PSEN1, PSEN2, APP, as well as the AD associated gene SORL1.” | 0.98 | hgnc_dict_v1 |
| gene | PSEN2 | “METHODS: Comprehensive screening for point mutations was carried out by direct sequencing of coding regions in the three known AD causative genes: PSEN1, PSEN2, APP, as well as the AD associated gene SORL1.” | 0.98 | hgnc_dict_v1 |
| gene | APP | “METHODS: Comprehensive screening for point mutations was carried out by direct sequencing of coding regions in the three known AD causative genes: PSEN1, PSEN2, APP, as well as the AD associated gene SORL1.” | 0.98 | hgnc_dict_v1 |