Varaico: Literature-Extracted Genetic Variants

Gene:SEZ6
Variant:p.T546A
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SEZ6

NM_178860.5:p.T546A

Associated Papers

The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.

Rupar N et al.

Gene, 2024

Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population.

Jiang J et al.

Neural Regeneration Research, 2012

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.

Zhang G et al.

Human Genomics, 2011

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.

Mulley JC et al.

Neurology Research International, 2011

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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."