Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.M1_A6del0
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ACTB

NM_001101.5:p.M1_A6del0

Associated Papers

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

Canafoglia L et al.

Epilepsia, 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."