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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPAST

Variant:p.R450_E454delFs

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SPAST

NM_014946.4:p.R450_E454delFs

hg38:chr2:32136902 AAGAAGAGAAGGGG>A

Associated Papers

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )

Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs

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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."