PSEN1 - Presenilin 1
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Diseases list
- Disease-causing germline mutation(s) in Early-onset autosomal dominant Alzheimer disease
- Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
- Disease-causing germline mutation(s) in Hidradenitis suppurativa
- Major susceptibility factor in Behavioral variant of frontotemporal dementia
- Major susceptibility factor in Progressive non-fluent aphasia
- Major susceptibility factor in Semantic dementia
Assessed
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