Varaico: Literature-Extracted Genetic Variants

Gene:GABRA5
Variant:p.T301M
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GABRA5

NM_000810.4:p.T301M

Associated Papers

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Koh HY et al.

Jama Network Open, 2023

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Bar C et al.

Epilepsia, 2020

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Bar C et al.

Human Mutation, 2020

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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."