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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
Skeletal dysplasia
49articles
49mentions
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 60A homozygous variant in FGFR3 causing lethal skeletal dysplasia.
PMID 41756230 | PMCID PMC12934494 | DOI 10.24911/SJP.106-1759127221 · Sudanese journal of paediatrics · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | skeletal dysplasia | “A homozygous variant in FGFR3 causing lethal skeletal dysplasia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Gly380Arg | “Molecular analysis revealed a homozygous c.1138G>A (p.Gly380Arg) variant in FGFR3.” | 0.95 | hgvs_regex_v1 |
| gene | FGFR3 | “A homozygous variant in FGFR3 causing lethal skeletal dysplasia.” | 0.98 | hgnc_dict_v1 |
| variant | c.1138G>A | “Molecular analysis revealed a homozygous c.1138G>A (p.Gly380Arg) variant in FGFR3.” | 0.95 | hgvs_regex_v1 |