Triple #21183

high Confidence

Knowledge triple

SMARCB1_mutations

Gene mutation

Level 1

confirm

causation

SMARCB1_deficiency

Loss of gene function

Level 1

Original triple: SMARCB1 mutations#confirm#SMARCB1-deficiency

Evidence and Confidence

Confidence: high
Evidence Strength: Experimental + Clinical
Condition Dependency: not_specified
Fact or Inference: Fact

Clinical Relevance

Clinical Relevance: Molecular Diagnostics

Other Info

PMID: 32839151
Knowledge Particle: KP10
Value Leadboard: 10
Gene Symbol: SMARCB1
Disease: head and neck carcinomas