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AP5B1

HGNC ↗

AP5B1-related late-onset macular dystrophy

1 article(s) in the watch · Constitutional genetics

Curated publications

7/10

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

AP5B1-related late-onset macular dystrophy

Gén.11 August 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

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