Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.L205R
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CAPN1

NM_005186.4:p.L205R

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG76

Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.

Zhu Z et al.

Neurogenetics, 2023

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

Méreaux JL et al.

Neurogenetics, 2021

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.

Lai LL et al.

Annals of Clinical and Translational Neurology, 2020

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Kim A et al.

Cerebellum (london, England), 2019

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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."