Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.L732P
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SPG7

NM_003119.4:p.L732P

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Schlüter A et al.

Genome Medicine, 2023

37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf

Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.

da Graça FF et al.

Cerebellum (london, England), 2022

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.

Saputra L et al.

Current Neurology and Neuroscience Reports, 2021

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.

Verdura E et al.

Annals of Clinical and Translational Neurology, 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."