Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.D408E
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SPG7

NM_003119.4:p.D408E

Associated Papers

Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.

Huang C et al.

Annals of Medicine, 2025

39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S5.xlsx › Sheet1

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.

Seo Y et al.

American Journal of Medical Genetics. Part A, 2023

Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy.

Seo Y et al.

Frontiers in Neurology, 2022

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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."