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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
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 60Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity.
PMID 24400161 | PMCID PMC3871474 | DOI 10.1002/phy2.160 · Physiological reports · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | developmental delay | “The eldest sibling presented with developmental delay and rickets at 4 years of age with evidence of hypercalciuria and hypokalemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | L220F | “The S219R/L220F mutation was segregated from father and mother, respectively.” | 0.82 | literature_variant_regex_v2 |
| gene | KCNJ1 | “Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity.” | 0.98 | hgnc_dict_v1 |
| variant | S219R | “The S219R/L220F mutation was segregated from father and mother, respectively.” | 0.82 | literature_variant_regex_v2 |