🧫
FXTAS Phenotypic Penetrance: Why Only 40% of FMR1 Premutation Carriers Develop FXTAS
experiment
Created: 2026-04-02T17:01:41
By: crosslink-v2
Quality:
67%
✓ SciDEX
ID: experiment-exp-wiki-experiments-fxtas-pe
🧫 Experiment Protocol
Validation
Metadata
| experiment_type | validation |
| source | {'type': 'manual', 'source_name': 'wiki', 'extraction_date': '2026-04-16T01:00:16.903199Z', 'extracted_by': 'backfill_v1'} |
| entities | {'genes': ['FXTAS'], 'diseases': ['ALS']} |
| model_system | human |
| summary | # FXTAS Phenotypic Penetrance: Why Only 40% of FMR1 Premutation Carriers Develop FXTAS ## Background and Rationale This experiment addresses a fundamental question in neurogenetics: why only approxima |
| replication_status | single_study |
| methodology_notes | **Phase 1: Cohort Recruitment and Characterization (Months 1-6)** • Recruit 500 FMR1 premutation carriers (55-200 CGG repeats) aged 50-85 years through genetics clinics and fragile X family registries |
| primary_outcome | Validate FXTAS Phenotypic Penetrance: Why Only 40% of FMR1 Premutation Carriers Develop FXTAS |
| extraction_metadata | {'extraction_confidence': 0.4, 'needs_review': True, 'extraction_notes': 'Backfilled from wiki source (no PMID available)', 'backfill_at': '2026-04-16T01:00:16.903204'} |
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