Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD2
Variant:p.L163P
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NEUROD2

NM_006160.4:p.L163P

Associated Papers

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

Gimeno AF et al.

American Journal of Medical Genetics. Part A, 2025

Knockdown of NeuroD2 leads to seizure-like behavior, brain neuronal hyperactivity and a leaky blood-brain barrier in a Xenopus laevis tadpole model of DEE75.

Banerjee S et al.

Genetics, 2024

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.

Runge K et al.

Molecular Psychiatry, 2021

Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

Mis EK et al.

American Journal of Medical Genetics. Part A, 2021

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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."