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1 records shown · first 60Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.
PMID 35813387 | PMCID PMC9257097 | DOI 10.3389/fped.2022.919996 · Frontiers in pediatrics · 2022 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.1212A>G | “Moreover, targeted Sanger sequencing analysis showed c.1212A>G p.Val404Ile in SCN1A gene in 10 unrelated patients and a mutation in Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4 gene where one base pair insertion of "G" c.78_79insG, p.Asp27Glyfs*26 in the exon 3 in three different patients were observed from the cohort of 25 epileptic sporadic cases.” | 0.95 | hgvs_regex_v1 |
| gene | SCN1A | “Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.” | 0.98 | hgnc_dict_v1 |
| gene | CACNB4 | “Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.” | 0.98 | phenotype_alias_lexicon_v2 |