Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.S206_G207delFs
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CAPN1

NM_005186.4:p.S206_G207delFs

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

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

Baviera-Muñoz R et al.

Neurology. Genetics, 2022

CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.

Rahimi Bidgoli MM et al.

The International Journal of Neuroscience, 2021

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

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.

Peng F et al.

Orphanet Journal of Rare Diseases, 2019

CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76.

Garcia-Berlanga JE et al.

Case Reports in Neurological Medicine, 2019

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.

Melo US et al.

Clinical Genetics, 2018

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A et al.

Frontiers in Neurology, 2018

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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."