Varaico: Literature-Extracted Genetic Variants

Gene:CD99L2
Variant:p.A17delFs
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CD99L2

NM_031462.4:p.A17delFs

Associated Papers

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Menden B et al.

Nature Communications, 2026

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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."