Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.D114fs
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CAPN1

NM_005186.4:p.D114fs

Associated Papers

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.

Méreaux JL et al.

Neurogenetics, 2021

Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.

Xia ZC et al.

Journal of the Neurological Sciences, 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."