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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
Primary ciliary dyskinesia
29articles
29mentions
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 60Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
PMID 25799584 | PMCID PMC4370501 | DOI 10.1371/journal.pone.0121351 · PloS one · 2015 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | primary ciliary dyskinesia | “The variant was initially identified in a heterozygous state in a PLS unaffected sibling whose whole exome had been sequenced as part of a previous Primary ciliary dyskinesia study.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.G300D | “A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry.” | 0.95 | hgvs_regex_v1 |
| gene | CTSC | “Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry. The prevalence of the mutation was then assayed in the local population using a representative sample of 256 unrelated individuals. The variant was absent in all subjects indicating that the variant is rare in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |