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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASK

Variant:p.G19*

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CASK

NM_001367721.1:p.G19*

hg38:chrX:41922934 C>A

Associated Papers

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

Kodera H et al.

Epilepsia, 2013

23662938 (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."