Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.R311Q
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CPA6

NM_020361.5:p.R311Q

Associated Papers

Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.

deCampo D et al.

Frontiers in Neurology, 2023

37077567 (PubMed )
Supplement: Data_Sheet_1.pdf

Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.

Sapio MR et al.

The Journal of Biological Chemistry, 2012

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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."