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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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Phenotype
Arrhythmia
555articles
555mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
PMID 15057979 | DOI 10.1002/ajmg.a.20573 · American journal of medical genetics. Part A · 2004 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | arrhythmia | “He presented shortly after birth with cardiac myopathy and arrhythmia coupled with severe non-ketotic hypoglycemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | Q238R | “Molecular studies indicated that this child was homozygous, and both parents heterozygous, for a single bp change converting glutamine 238 to arginine (Q238R).” | 0.82 | literature_variant_regex_v2 |
| phenotype | congenital myopathy | “He presented shortly after birth with cardiac myopathy and arrhythmia coupled with severe non-ketotic hypoglycemia.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Population | “Our patient was the product of a consanguineous marriage.” | 0.80 | saudi_context_rules_v1 |