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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP5Z1

Variant:p.Y779N

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AP5Z1

NM_014855.3:p.Y779N

hg38:chr7:4791296 T>A

Associated Papers

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V et al.

Brain : a Journal of Neurology, 2014

24833714 (PubMed )

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