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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
Gaucher disease
25articles
25mentions
5co-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
2 records shown · first 60A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.
PMID 30635084 | DOI 10.1016/bs.apcsb.2018.10.002 · Advances in protein chemistry and structural biology · 2019 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Gaucher disease | “A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | L444P | “A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.” | 0.82 | literature_variant_regex_v2 |
| variant | N370S | “A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.” | 0.82 | literature_variant_regex_v2 |
Gaucher disease in Syrian children: common mutations identification, and clinical futures.
PMID 26336018 | PMCID PMC6074127 | DOI 10.5144/0256-4947.2015.127 · Annals of Saudi medicine · 2015 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Gaucher disease | “Gaucher disease in Syrian children: common mutations identification, and clinical futures.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | L444P | “Twelve patients (63, 2%) were homozygous for the L444P mutation, 1 patient (5.3%) was homozygous for the N370S mutation, and 1 patient (5.3%) was heterozygous for the N370S mutation.” | 0.82 | literature_variant_regex_v2 |
| variant | N370S | “Twelve patients (63, 2%) were homozygous for the L444P mutation, 1 patient (5.3%) was homozygous for the N370S mutation, and 1 patient (5.3%) was heterozygous for the N370S mutation.” | 0.82 | literature_variant_regex_v2 |