Varaico: Literature-Extracted Genetic Variants

Gene:GAD1
Variant:p.L284F
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GAD1

NM_000817.3:p.L284F

Associated Papers

Developmental and epileptic encephalopathy 89: A novel bi-allelic variant, molecular dynamics simulation, and a comprehensive clinical and molecular profile.

Khorram E et al.

Epilepsia Open, 2023

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Aspromonte MC et al.

Human Mutation, 2019

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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."