Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1436*
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SPG11

NM_025137.4:p.Q1436*

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG11

Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study.

Cui F et al.

Medicine, 2020

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL et al.

Molecular Neurodegeneration, 2018

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.

Cao L et al.

Parkinsonism & Related Disorders, 2013

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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."