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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
Congenital myopathy
134articles
134mentions
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 60Structural insight into mutations at 155 position of valosin containing protein (VCP) linked to inclusion body myopathy with Paget disease of bone and frontotemporal Dementia.
PMID 33911929 | PMCID PMC8071901 | DOI 10.1016/j.sjbs.2021.02.048 · Saudi journal of biological sciences · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | congenital myopathy | “Structural insight into mutations at 155 position of valosin containing protein (VCP) linked to inclusion body myopathy with Paget disease of bone and frontotemporal Dementia.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | R155H | “Three missense mutations reported in this hotspot are R155C, R155H and R155P.” | 0.82 | literature_variant_regex_v2 |
| gene | VCP | “Structural insight into mutations at 155 position of valosin containing protein (VCP) linked to inclusion body myopathy with Paget disease of bone and frontotemporal Dementia.” | 0.98 | hgnc_dict_v1 |
| variant | R155C | “Three missense mutations reported in this hotspot are R155C, R155H and R155P.” | 0.82 | literature_variant_regex_v2 |