Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.I743insFs
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SPG7

NM_003119.4:p.I743insFs

Associated Papers

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

Casari G et al.

Cell, 1998

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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."