Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.G724G
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CACNA1H

NM_021098.3:p.G724G

Associated Papers

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.

Santos-Rebouças CB et al.

Neuroscience Letters, 2011

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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."