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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CES5A

Variant:p.C10R

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CES5A

NM_001190158.1:p.C10R

hg38:chr16:55955858 A>G

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

28145425 (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."