Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1B
Variant:p.S48L
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CACNA1B

NM_000718.4:p.S48L

Associated Papers

Phenotypes in children with GNAO1 encephalopathy in China.

Li Y et al.

Frontiers in Pediatrics, 2023

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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."