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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
Cystic fibrosis
157articles
157mentions
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 60Recurrent episodes of unexplained hypoelectrolytaemia of a rare cause in a young Saudi girl.
PMID 26494713 | PMCID PMC4620217 | DOI 10.1136/bcr-2014-208925 · BMJ case reports · 2015 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | cystic fibrosis | “Her cystic fibrosis CFTR (Cystic Fibrosis Transmembrane conductance Regulator) full gene sequence confirmed that she was homozygous for D579G mutation.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | D579G | “Her cystic fibrosis CFTR (Cystic Fibrosis Transmembrane conductance Regulator) full gene sequence confirmed that she was homozygous for D579G mutation.” | 0.82 | literature_variant_regex_v2 |
| gene | CFTR | “Her cystic fibrosis CFTR (Cystic Fibrosis Transmembrane conductance Regulator) full gene sequence confirmed that she was homozygous for D579G mutation.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Recurrent episodes of unexplained hypoelectrolytaemia of a rare cause in a young Saudi girl. We report a case of a 36-month-old Saudi girl who presented with recurrent episodes of unexplained hypoelectrolytaemia.” | 0.95 | saudi_context_rules_v1 |