Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.V64fs
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CAPN1

NM_005186.4:p.V64fs

Associated Papers

Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.

Manini A et al.

Journal of Neurology, 2025

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

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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."