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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG21

Variant:p.V52fs

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SPG21

NM_016630.7:p.V52fs

hg38:chr15:64980933 G>GN

Associated Papers

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.

Amprosi M et al.

Journal of Neurology, 2026

41586880 (PubMed )

Mast Syndrome Outside the Amish Community: SPG21 in Europe.

Amprosi M et al.

Frontiers in Neurology, 2021

35111129 (PubMed )

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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."