Varaico: Literature-Extracted Genetic Variants

Gene:AP1M1
Variant:p.P317insFs
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AP1M1

NM_032493.4:p.P317insFs

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: mmc5.pdf
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