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Examples of homozygous/heterozygous variants in the same gene causing a severe early-onset disease and increasing the risk for a different late-onset disease
| Gene | Homozygous mutations cause | Refs. | Heterozygous variants increase risk for | Refs. |
|---|---|---|---|---|
| TREM2 | Nasu-Hakola and FTD-like syndrome without bone disease | (49,50) | Alzheimer's disease | (6,7) |
| GBA | Gaucher's disease | (51) | Parkinson's disease | (52) |
Refs., references.
