Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.G278W
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CAPN1

NM_005186.4:p.G278W

Associated Papers

Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes.

Fratto E et al.

Cerebellum (london, England), 2024

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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."