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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG7

Variant:p.S495fs

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SPG7

NM_003119.4:p.S495fs

hg38:chr16:89546691 A>AN

Associated Papers

Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.

Gorcenco S et al.

Journal of Neurology, 2024

37787810 (PubMed )

Supplement: 415_2023_11990_MOESM1_ESM.docx

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."