Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.H1932delFs
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SPG11

NM_025137.4:p.H1932delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

van Eyk CL et al.

Npj Genomic Medicine, 2021

34531397 (PubMed )
Supplement: 41525_2021_238_MOESM1_ESM.pdf

Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.

Jiao B et al.

Parkinsonism & Related Disorders, 2020

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