Varaico: Literature-Extracted Genetic Variants

Gene:MADD
Variant:p.V340M
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MADD

NM_001376571.1:p.V340M

Associated Papers

Loss of Function of KCNC1 is associated with intellectual disability without seizures.

Poirier K et al.

European Journal of Human Genetics : Ejhg, 2017

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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."