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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASK

Variant:p.V690Splc

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CASK

NM_001126055.3:p.V690Splc

hg38:chrX:41542690 C>T

Associated Papers

The eldest case of MICPCH with CASK mutation exhibiting gross motor regression.

Nishio Y et al.

Brain & Development, 2021

33272775 (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."