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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACS

Variant:p.F468_G469del2

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SACS

NM_014363.6:p.F468_G469del2

hg38:chr13:23355204 GGCCAAA>G

Associated Papers

Frameshift and Copy Number Variants in SACS-Related Neuropathy.

Yuan JH et al.

Neurology. Genetics, 2025

41164123 (PubMed )

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