Varaico: Literature-Extracted Genetic Variants

Gene:CEP85L
Variant:p.D65N
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CEP85L

NM_001178035.2:p.D65N

Associated Papers

Overview and expansion of CEP85L-associated lissencephaly.

Schumann I et al.

European Journal of Medical Genetics, 2025

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Tsai MH et al.

Neuron, 2020

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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."