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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAB8A

Variant:p.R104H

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RAB8A

NM_005370.5:p.R104H

hg38:chr19:16125534 G>A

Associated Papers

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Talarico M et al.

Epilepsia Open, 2024

38544349 (PubMed )

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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."