Varaico: Literature-Extracted Genetic Variants

Gene:EML1
Variant:p.P81P
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EML1

NM_004434.3:p.P81P

Associated Papers

Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.

Zaidi D et al.

The Journal of Cell Biology, 2024

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.

Romero DM et al.

Nature Communications, 2022

Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.

Jabali A et al.

Embo Reports, 2022

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.

Uzquiano A et al.

Cell Reports, 2019

Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex.

Bizzotto S et al.

Scientific Reports, 2017

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

Kielar M et al.

Nature Neuroscience, 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."