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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 60Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.
PMID 22708720 | DOI 10.1111/j.1399-0004.2012.01914.x · Clinical genetics · 2013 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.H258P | “Screening KCNQ1, KCNH2, and SCN5A genes in the proband, who presented with syncope, led to the identification of a heterozygous mutation (p.H258P) in KCNQ1.” | 0.95 | hgvs_regex_v1 |
| gene | KCNQ1 | “Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.” | 0.98 | hgnc_dict_v1 |
| gene | KCNH2 | “Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases.” | 0.98 | hgnc_dict_v1 |
| gene | SCN5A | “Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases.” | 0.98 | hgnc_dict_v1 |