Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.Y320fs
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CAPN1

NM_005186.4:p.Y320fs

Associated Papers

Apoptosis and motor deficits in SPG76 hereditary spastic paraplegia: Calpain 2 inhibition as therapeutic strategy.

Brivio F et al.

Pharmacological Research, 2026

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

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.

Cotti Piccinelli S et al.

Frontiers in Neurology, 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."