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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG11

Variant:p.L107insFs

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SPG11

NM_025137.4:p.L107insFs

hg38:chr15:44660554 A>AG

Associated Papers

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

Günther S et al.

Human Mutation, 2016

27071356 (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."