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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN1

Variant:p.R512H

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CAPN1

NM_005186.4:p.R512H

hg38:chr11:65206644 G>A

Associated Papers

"Ear of the Lynx" Sign in Hereditary Spastic Paraparesis (HSP) 76.

Agarwal A et al.

Movement Disorders Clinical Practice, 2023

36704071 (PubMed )

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