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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 60A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
PMID 32414585 | DOI 10.1016/j.jstrokecerebrovasdis.2020.104832 · Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Trp1003Cys | “A whole exome sequencing to the patient (proband II-1) revealed a novel heterozygous missense variant c.3009G>T, p.(Trp1003Cys) (chr19;15291625; hg19) in exon 19 of the NOTCH3 gene.” | 0.95 | hgvs_regex_v1 |
| gene | NOTCH3 | “A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “In this article, we report a 40-year-old male patient who presented with a two-year history of progressive cognitive decline including impaired attention, memory, executive functions, and processing speed whose family history was strongly positive for young-onset ischemic stroke and memory impairment.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “His father, uncle, and grandfather died due to ischemic strokes and cognitive impairment (similar condition).” | 0.93 | phenotype_alias_lexicon_v2 |