Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.R285*
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CAPN1

NM_005186.4:p.R285*

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.

Sadr Z et al.

Neurogenetics, 2024

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

Zhu Z et al.

Neurogenetics, 2023

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

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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."