Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.C633fs
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CASK

NM_001367721.1:p.C633fs

Associated Papers

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

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Hayashi S et al.

Plos One, 2017

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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."