Varaico: Literature-Extracted Genetic Variants

Gene:CACNB4
Variant:p.A387A
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CACNB4

NM_000726.5:p.A387A

Associated Papers

Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.

Lin WD et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.

Chou IC et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.

Lin WD et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.

Chou IC et al.

Human Genetics, 2010

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

Escayg A et al.

American Journal of Human Genetics, 2001

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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."