Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.I722fs
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SPG11

NM_025137.4:p.I722fs

Associated Papers

Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.

Xu J et al.

Bmc Pediatrics, 2024

Clinical analysis in patients with SPG11 hereditary spastic paraplegia.

Kang YR et al.

Frontiers in Neurology, 2023

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3

Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.

Kim M et al.

Parkinsonism & Related Disorders, 2020

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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."