Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.A270V
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CPA6

NM_020361.5:p.A270V

Associated Papers

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

Thakran S et al.

International Journal of Molecular Sciences, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

The genetics and molecular biology of fever-associated seizures or epilepsy.

Deng H et al.

Expert Reviews in Molecular Medicine, 2018

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."