Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.E741K
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SPG7

NM_003119.4:p.E741K

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7

Trends and prospects in mitochondrial genome editing.

Phan HTL et al.

Experimental & Molecular Medicine, 2023

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G et al.

Brain : a Journal of Neurology, 2014

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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."