Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.P420_N423delFs
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CASK

NM_001367721.1:p.P420_N423delFs

Associated Papers

[Genetic and clinical analysis of two children with microcephaly and mental retardation due to a frameshifting variant of CASK gene].

Liu S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

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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."