Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.R257M
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CPA6

NM_020361.5:p.R257M

Associated Papers

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.

Sun Y et al.

Epilepsia Open, 2025

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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."