Varaico: Literature-Extracted Genetic Variants

Gene:AP5Z1
Variant:p.W441delFs
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AP5Z1

NM_014855.3:p.W441delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.

Breza M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

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