Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.E398Q
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CPA6

NM_020361.5:p.E398Q

Associated Papers

Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.

Sapio MR et al.

Plos One, 2015

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

Sapio MR et al.

The Journal of Biological Chemistry, 2012

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.

Salzmann A et al.

Human Mutation, 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."