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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN1

Variant:p.E523fs

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CAPN1

NM_005186.4:p.E523fs

hg38:chr11:65206781 GAG>N

Associated Papers

White matter abnormalities in 15 subjects with SPG76.

Alkhalifa A et al.

Journal of Neurology, 2023

37578488 (PubMed )

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

Méreaux JL et al.

Neurogenetics, 2021

33486633 (PubMed )

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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."