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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASK

Variant:p.R681*

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CASK

NM_001367721.1:p.R681*

hg38:chrX:41542805 G>A

Associated Papers

Discordant phenotype caused by CASK mutation in siblings with NF1.

Murakami H et al.

Human Genome Variation, 2019

31044082 (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."