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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG11

Variant:p.T1048I

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SPG11

NM_025137.4:p.T1048I

hg38:chr15:44613432 G>A

Associated Papers

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Mademont-Soler I et al.

Molecular Genetics & Genomic Medicine, 2024

38938072 (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."