Varaico: Literature-Extracted Genetic Variants

Gene:AP5Z1
Variant:p.R311*
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AP5Z1

NM_014855.3:p.R311*

Associated Papers

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Kaminska K et al.

American Journal of Human Genetics, 2025

40081374 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG48
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