Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.R106G
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CASK

NM_001367721.1:p.R106G

Associated Papers

Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.

Dubbs H et al.

American Journal of Medical Genetics. Part A, 2022

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

Zhang Y et al.

Italian Journal of Pediatrics, 2022

Late-onset epileptic spasms in a female patient with a CASK mutation.

Nakajiri T et al.

Brain & Development, 2015

Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.

Takanashi J et al.

American Journal of Medical Genetics. Part A, 2012

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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."