Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.P136fs
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CAPN1

NM_005186.4:p.P136fs

Associated Papers

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

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

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Gan-Or Z et al.

American Journal of Human Genetics, 2016

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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."