Varaico: Literature-Extracted Genetic Variants

Gene:CDK5
Variant:p.E194Splc
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CDK5

NM_004935.4:p.E194Splc

Associated Papers

A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7.

Moirangthem A et al.

Clinical Genetics, 2025

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D et al.

Human Genetics, 2015

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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."