Varaico: Literature-Extracted Genetic Variants

Gene:CAD
Variant:p.R1567Q
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CAD

NM_004341.5:p.R1567Q

Associated Papers

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Cuccurullo C et al.

Epilepsia, 2024

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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."