Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K485fs
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CDKL5

NM_001323289.2:p.K485fs

Associated Papers

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.

Specchio N et al.

Cerebral Cortex (new York, N.y. : 1991), 2023

CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.

Darra F et al.

Epilepsy Research, 2023

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

Mei D et al.

Epilepsia, 2014

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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."