Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.G344D
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SPG7

NM_003119.4:p.G344D

Associated Papers

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.

Amprosi M et al.

Journal of Neurology, 2026

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.

Jimoh IJ et al.

Clinical Genetics, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.

Osmanovic A et al.

Journal of Neurology, 2020

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.

Hewamadduma CA et al.

Neurology. Genetics, 2018

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

Balicza P et al.

Journal of the Neurological Sciences, 2016

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Couthouis J et al.

Plos Genetics, 2014

25299611 (PubMed )
Supplement: pgen.1004704.s002.xlsx › Sheet1

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

Schlipf NA et al.

Clinical Genetics, 2011

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