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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.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
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1 records shown · first 60Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic.
PMID 37348440 | DOI 10.1016/j.jstrokecerebrovasdis.2023.107225 · Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2023 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.1156C>T | “In this article, we reported the first case of CARASIL from Saudi Arabia with a novel homozygous variant c.1156C>T in exon 7 of the HTRA1 gene.” | 0.95 | hgvs_regex_v1 |
| gene | HTRA1 | “In this article, we reported the first case of CARASIL from Saudi Arabia with a novel homozygous variant c.1156C>T in exon 7 of the HTRA1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | multiple sclerosis | “Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “In this article, we reported the first case of CARASIL from Saudi Arabia with a novel homozygous variant c.1156C>T in exon 7 of the HTRA1 gene.” | 0.95 | saudi_context_rules_v1 |