Varaico: Literature-Extracted Genetic Variants

Gene:CEP85L
Variant:p.D78Splc
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CEP85L

NM_001042475.3:p.D78Splc

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 Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.

Contrò G et al.

Genes, 2021

34440382 (PubMed )
Supplement: genes-12-01208-s001.zip › GENES_Contro_CEP85L_Figure_S1_Tables_S1_S2_S4.pdf

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."