Varaico: Literature-Extracted Genetic Variants

Gene:CEP85L
Variant:p.S58N
Back to variants list

CEP85L

NM_001042475.3:p.S58N

Associated Papers

Overview and expansion of CEP85L-associated lissencephaly.

Schumann I et al.

European Journal of Medical Genetics, 2025

Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.

Leduc-Pessah H et al.

American Journal of Medical Genetics. Part A, 2023

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.

Kodani A et al.

Neuron, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."