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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP4B1

Variant:p.L386*

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AP4B1

NM_001253852.3:p.L386*

hg38:chr1:113898759 A>C

Associated Papers

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Doronzio PN et al.

Journal of Neurology, 2025

40498122 (PubMed )

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